Canonical Allele Identifier: CA602577924

Gene: HMBS

Linked Data

• dbSNP Id: rs1044721020
• gnomAD v2: 11-118963773-A-T
• gnomAD v3: 11-119093063-A-T
• gnomAD v4: 11-119093063-A-T
• MyVariant Identifiers: chr11:g.118963773A>T (hg19) ; chr11:g.119093063A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093063A>T , CM000673.2:g.119093063A>T	GRCh38
NC_000011.9:g.118963773A>T , CM000673.1:g.118963773A>T	GRCh37
NC_000011.8:g.118468983A>T	NCBI36
NG_008093.1:g.13187A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.747+42A>T	ENSP00000509288.1:n.747+42A>T
ENST00000691144.1:n.3127+42A>T
ENST00000691249.1:n.1736+42A>T
ENST00000442944.7:c.894+42A>T	ENSP00000392041.3:n.894+42A>T
ENST00000640813.1:c.*149+42A>T	ENSP00000491061.1:n.*149+42A>T
ENST00000648026.1:c.806+42A>T	ENSP00000498044.1:n.806+42A>T
ENST00000648374.1:c.861+42A>T	ENSP00000497255.1:n.861+42A>T
ENST00000650101.1:c.843+42A>T	ENSP00000496970.1:n.843+42A>T
ENST00000650307.1:n.1738+42A>T
ENST00000652429.1:c.912+42A>T MANE Select	ENSP00000498786.1:n.912+42A>T
ENST00000278715.7:c.912+42A>T	ENSP00000278715.3:n.912+42A>T
ENST00000392841.1:c.861+42A>T	ENSP00000376584.1:n.861+42A>T
ENST00000442944.6:c.861+42A>T	ENSP00000392041.2:n.861+42A>T
ENST00000537841.5:c.861+42A>T	ENSP00000444730.1:n.861+42A>T
ENST00000539045.1:n.411+42A>T
ENST00000542044.5:n.1357+42A>T
ENST00000542729.5:c.741+42A>T	ENSP00000443058.1:n.741+42A>T
ENST00000543090.5:c.819+42A>T	ENSP00000445429.1:n.819+42A>T
ENST00000543543.5:n.1387+42A>T
ENST00000544182.1:n.1361+42A>T
ENST00000544387.5:c.792+42A>T	ENSP00000438424.1:n.792+42A>T
ENST00000546226.5:n.1674+42A>T
NM_000190.3:c.912+42A>T	NP_000181.2:n.912+42A>T
NM_001024382.1:c.861+42A>T	NP_001019553.1:n.861+42A>T
NM_001258208.1:c.792+42A>T	NP_001245137.1:n.792+42A>T
NM_001258209.1:c.741+42A>T	NP_001245138.1:n.741+42A>T
XM_005271531.1:c.861+42A>T	XP_005271588.1:n.861+42A>T
XM_005271532.1:c.861+42A>T	XP_005271589.1:n.861+42A>T
XM_005271533.2:c.858+42A>T	XP_005271590.1:n.858+42A>T
XM_011542796.1:c.747+42A>T	XP_011541098.1:n.747+42A>T
NM_000190.4:c.912+42A>T MANE Select	NP_000181.2:n.912+42A>T
NM_001024382.2:c.861+42A>T	NP_001019553.1:n.861+42A>T
XM_005271533.3:c.858+42A>T	XP_005271590.1:n.858+42A>T
XM_017017629.1:c.861+42A>T	XP_016873118.1:n.861+42A>T
XM_024448460.1:c.738+42A>T	XP_024304228.1:n.738+42A>T
NM_001258208.2:c.792+42A>T	NP_001245137.1:n.792+42A>T
NM_001258209.2:c.741+42A>T	NP_001245138.1:n.741+42A>T