Canonical Allele Identifier: CA229595455

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2735769
• ClinVar RCV Id: RCV003557675
• dbSNP Id: rs914335144
• gnomAD v2: 11-118962228-G-T
• gnomAD v3: 11-119091518-G-T
• gnomAD v4: 11-119091518-G-T
• MyVariant Identifiers: chr11:g.118962228G>T (hg19) ; chr11:g.119091518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091518G>T , CM000673.2:g.119091518G>T	GRCh38
NC_000011.9:g.118962228G>T , CM000673.1:g.118962228G>T	GRCh37
NC_000011.8:g.118467438G>T	NCBI36
NG_008093.1:g.11642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.439G>T	ENSP00000509288.1:p.Val147Leu
ENST00000686690.1:n.1454G>T
ENST00000691144.1:n.2345G>T
ENST00000691249.1:n.1188G>T
ENST00000442944.7:c.586G>T	ENSP00000392041.3:p.Val196Leu
ENST00000534956.2:n.448-343G>T
ENST00000536813.6:c.553G>T	ENSP00000438726.2:p.Val185Leu
ENST00000546302.6:c.526G>T	ENSP00000445599.1:p.Val176Leu
ENST00000640813.1:c.448-343G>T	ENSP00000491061.1:n.448-343G>T
ENST00000648026.1:c.493-343G>T	ENSP00000498044.1:n.493-343G>T
ENST00000648374.1:c.553G>T	ENSP00000497255.1:p.Val185Leu
ENST00000648488.1:c.*85+262G>T	ENSP00000498079.1:n.*85+262G>T
ENST00000649823.1:n.821G>T
ENST00000649868.1:c.*207-343G>T	ENSP00000497548.1:n.*207-343G>T
ENST00000650101.1:c.535G>T	ENSP00000496970.1:p.Val179Leu
ENST00000650307.1:n.1430G>T
ENST00000652429.1:c.604G>T MANE Select	ENSP00000498786.1:p.Val202Leu
ENST00000278715.7:c.604G>T	ENSP00000278715.3:p.Val202Leu
ENST00000392841.1:c.553G>T	ENSP00000376584.1:p.Val185Leu
ENST00000442944.6:c.553G>T	ENSP00000392041.2:p.Val185Leu
ENST00000534956.1:n.415-343G>T
ENST00000535253.5:c.553G>T	ENSP00000442079.1:p.Val185Leu
ENST00000535793.5:c.*499G>T	ENSP00000439904.1:n.*499G>T
ENST00000537841.5:c.553G>T	ENSP00000444730.1:p.Val185Leu
ENST00000539986.5:c.553G>T	ENSP00000440092.1:p.Val185Leu
ENST00000542044.5:n.1049G>T
ENST00000542345.5:n.742G>T
ENST00000542729.5:c.553G>T	ENSP00000443058.1:p.Val185Leu
ENST00000542822.5:c.*540G>T	ENSP00000444817.1:n.*540G>T
ENST00000543090.5:c.550G>T	ENSP00000445429.1:p.Val184Leu
ENST00000543543.5:n.839G>T
ENST00000544360.5:n.572G>T
ENST00000544387.5:c.604G>T	ENSP00000438424.1:p.Val202Leu
ENST00000545621.5:c.*499G>T	ENSP00000444849.1:n.*499G>T
ENST00000546226.5:n.892G>T
ENST00000546302.5:c.526G>T	ENSP00000445599.1:p.Val176Leu
NM_000190.3:c.604G>T	NP_000181.2:p.Val202Leu
NM_001024382.1:c.553G>T	NP_001019553.1:p.Val185Leu
NM_001258208.1:c.604G>T	NP_001245137.1:p.Val202Leu
NM_001258209.1:c.553G>T	NP_001245138.1:p.Val185Leu
XM_005271531.1:c.553G>T	XP_005271588.1:p.Val185Leu
XM_005271532.1:c.553G>T	XP_005271589.1:p.Val185Leu
XM_005271533.2:c.550G>T	XP_005271590.1:p.Val184Leu
XM_011542796.1:c.439G>T	XP_011541098.1:p.Val147Leu
NM_000190.4:c.604G>T MANE Select	NP_000181.2:p.Val202Leu
NM_001024382.2:c.553G>T	NP_001019553.1:p.Val185Leu
XM_005271533.3:c.550G>T	XP_005271590.1:p.Val184Leu
XM_017017629.1:c.553G>T	XP_016873118.1:p.Val185Leu
XM_024448460.1:c.550G>T	XP_024304228.1:p.Val184Leu
NM_001258208.2:c.604G>T	NP_001245137.1:p.Val202Leu
NM_001258209.2:c.553G>T	NP_001245138.1:p.Val185Leu