Canonical Allele Identifier: CA6313972

Gene: HMBS

Linked Data

• dbSNP Id: rs558619975
• ExAC: 11:118959891 C / T
• gnomAD v3: 11-119089181-C-T
• gnomAD v4: 11-119089181-C-T
• MyVariant Identifiers: chr11:g.118959891C>T (hg19) ; chr11:g.119089181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089181C>T , CM000673.2:g.119089181C>T	GRCh38
NC_000011.9:g.118959891C>T , CM000673.1:g.118959891C>T	GRCh37
NC_000011.8:g.118465101C>T	NCBI36
NG_008093.1:g.9305C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.46-36C>T	ENSP00000509288.1:n.46-36C>T
ENST00000686690.1:n.796C>T
ENST00000691144.1:n.1916C>T
ENST00000691249.1:n.795-36C>T
ENST00000442944.7:c.193-36C>T	ENSP00000392041.3:n.193-36C>T
ENST00000534956.2:n.160-36C>T
ENST00000536813.6:c.160-36C>T	ENSP00000438726.2:n.160-36C>T
ENST00000546302.6:c.211-36C>T	ENSP00000445599.1:n.211-36C>T
ENST00000640813.1:c.160-36C>T	ENSP00000491061.1:n.160-36C>T
ENST00000648026.1:c.205-36C>T	ENSP00000498044.1:n.205-36C>T
ENST00000648374.1:c.160-36C>T	ENSP00000497255.1:n.160-36C>T
ENST00000648488.1:c.160-36C>T	ENSP00000498079.1:n.160-36C>T
ENST00000649823.1:n.428-36C>T
ENST00000649868.1:c.66-36C>T	ENSP00000497548.1:n.66-36C>T
ENST00000650101.1:c.142-36C>T	ENSP00000496970.1:n.142-36C>T
ENST00000650307.1:n.1037-36C>T
ENST00000652429.1:c.211-36C>T MANE Select	ENSP00000498786.1:n.211-36C>T
ENST00000278715.7:c.211-36C>T	ENSP00000278715.3:n.211-36C>T
ENST00000392841.1:c.160-36C>T	ENSP00000376584.1:n.160-36C>T
ENST00000442944.6:c.160-36C>T	ENSP00000392041.2:n.160-36C>T
ENST00000534956.1:n.127-36C>T
ENST00000535253.5:c.160-36C>T	ENSP00000442079.1:n.160-36C>T
ENST00000535793.5:c.*106-36C>T	ENSP00000439904.1:n.*106-36C>T
ENST00000536185.5:n.329-36C>T
ENST00000536813.5:c.193-36C>T	ENSP00000438726.1:n.193-36C>T
ENST00000537841.5:c.160-36C>T	ENSP00000444730.1:n.160-36C>T
ENST00000539986.5:c.160-36C>T	ENSP00000440092.1:n.160-36C>T
ENST00000542044.5:n.656-36C>T
ENST00000542345.5:n.349-36C>T
ENST00000542729.5:c.160-36C>T	ENSP00000443058.1:n.160-36C>T
ENST00000542822.5:c.*147-36C>T	ENSP00000444817.1:n.*147-36C>T
ENST00000543090.5:c.157-36C>T	ENSP00000445429.1:n.157-36C>T
ENST00000543543.5:n.446-36C>T
ENST00000543821.5:n.357-36C>T
ENST00000544360.5:n.179-36C>T
ENST00000544387.5:c.211-36C>T	ENSP00000438424.1:n.211-36C>T
ENST00000545621.5:c.*106-36C>T	ENSP00000444849.1:n.*106-36C>T
ENST00000546226.5:n.270-36C>T
ENST00000546302.5:c.211-36C>T	ENSP00000445599.1:n.211-36C>T
NM_000190.3:c.211-36C>T	NP_000181.2:n.211-36C>T
NM_001024382.1:c.160-36C>T	NP_001019553.1:n.160-36C>T
NM_001258208.1:c.211-36C>T	NP_001245137.1:n.211-36C>T
NM_001258209.1:c.160-36C>T	NP_001245138.1:n.160-36C>T
XM_005271531.1:c.160-36C>T	XP_005271588.1:n.160-36C>T
XM_005271532.1:c.160-36C>T	XP_005271589.1:n.160-36C>T
XM_005271533.2:c.157-36C>T	XP_005271590.1:n.157-36C>T
XM_011542796.1:c.46-36C>T	XP_011541098.1:n.46-36C>T
NM_000190.4:c.211-36C>T MANE Select	NP_000181.2:n.211-36C>T
NM_001024382.2:c.160-36C>T	NP_001019553.1:n.160-36C>T
XM_005271533.3:c.157-36C>T	XP_005271590.1:n.157-36C>T
XM_017017629.1:c.160-36C>T	XP_016873118.1:n.160-36C>T
XM_024448460.1:c.157-36C>T	XP_024304228.1:n.157-36C>T
NM_001258208.2:c.211-36C>T	NP_001245137.1:n.211-36C>T
NM_001258209.2:c.160-36C>T	NP_001245138.1:n.160-36C>T