Canonical Allele Identifier: CA6314158

Gene: HMBS

Linked Data

• dbSNP Id: rs376554428
• ExAC: 11:118963171 G / A
• gnomAD v2: 11-118963171-G-A
• gnomAD v4: 11-119092461-G-A
• MyVariant Identifiers: chr11:g.118963171G>A (hg19) ; chr11:g.119092461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092461G>A , CM000673.2:g.119092461G>A	GRCh38
NC_000011.9:g.118963171G>A , CM000673.1:g.118963171G>A	GRCh37
NC_000011.8:g.118468381G>A	NCBI36
NG_008093.1:g.12585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.544G>A	ENSP00000509288.1:p.Val182Met
ENST00000691144.1:n.2690G>A
ENST00000691249.1:n.1533G>A
ENST00000442944.7:c.691G>A	ENSP00000392041.3:p.Val231Met
ENST00000536813.6:c.658G>A	ENSP00000438726.2:p.Val220Met
ENST00000640813.1:c.519G>A	ENSP00000491061.1:p.Val173=
ENST00000648026.1:c.603G>A	ENSP00000498044.1:p.Val201=
ENST00000648374.1:c.658G>A	ENSP00000497255.1:p.Val220Met
ENST00000649823.1:n.1166G>A
ENST00000650101.1:c.640G>A	ENSP00000496970.1:p.Val214Met
ENST00000650307.1:n.1535G>A
ENST00000652429.1:c.709G>A MANE Select	ENSP00000498786.1:p.Val237Met
ENST00000278715.7:c.709G>A	ENSP00000278715.3:p.Val237Met
ENST00000392841.1:c.658G>A	ENSP00000376584.1:p.Val220Met
ENST00000442944.6:c.658G>A	ENSP00000392041.2:p.Val220Met
ENST00000537841.5:c.658G>A	ENSP00000444730.1:p.Val220Met
ENST00000542044.5:n.1154G>A
ENST00000542729.5:c.601-297G>A	ENSP00000443058.1:n.601-297G>A
ENST00000543090.5:c.616G>A	ENSP00000445429.1:p.Val206Met
ENST00000543543.5:n.1184G>A
ENST00000544182.1:n.924G>A
ENST00000544387.5:c.652-297G>A	ENSP00000438424.1:n.652-297G>A
ENST00000545621.5:c.*844G>A	ENSP00000444849.1:n.*844G>A
ENST00000546226.5:n.1237G>A
NM_000190.3:c.709G>A	NP_000181.2:p.Val237Met
NM_001024382.1:c.658G>A	NP_001019553.1:p.Val220Met
NM_001258208.1:c.652-297G>A	NP_001245137.1:n.652-297G>A
NM_001258209.1:c.601-297G>A	NP_001245138.1:n.601-297G>A
XM_005271531.1:c.658G>A	XP_005271588.1:p.Val220Met
XM_005271532.1:c.658G>A	XP_005271589.1:p.Val220Met
XM_005271533.2:c.655G>A	XP_005271590.1:p.Val219Met
XM_011542796.1:c.544G>A	XP_011541098.1:p.Val182Met
NM_000190.4:c.709G>A MANE Select	NP_000181.2:p.Val237Met
NM_001024382.2:c.658G>A	NP_001019553.1:p.Val220Met
XM_005271533.3:c.655G>A	XP_005271590.1:p.Val219Met
XM_017017629.1:c.658G>A	XP_016873118.1:p.Val220Met
XM_024448460.1:c.598-297G>A	XP_024304228.1:n.598-297G>A
NM_001258208.2:c.652-297G>A	NP_001245137.1:n.652-297G>A
NM_001258209.2:c.601-297G>A	NP_001245138.1:n.601-297G>A