Canonical Allele Identifier: CA382898263

Gene: HMBS

Linked Data

• dbSNP Id: rs1292204966
• gnomAD v2: 11-118963474-G-C
• gnomAD v4: 11-119092764-G-C
• MyVariant Identifiers: chr11:g.118963474G>C (hg19) ; chr11:g.119092764G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092764G>C , CM000673.2:g.119092764G>C	GRCh38
NC_000011.9:g.118963474G>C , CM000673.1:g.118963474G>C	GRCh37
NC_000011.8:g.118468684G>C	NCBI36
NG_008093.1:g.12888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.613G>C	ENSP00000509288.1:p.Gly205Arg
ENST00000691144.1:n.2993G>C
ENST00000691249.1:n.1602G>C
ENST00000442944.7:c.760G>C	ENSP00000392041.3:p.Gly254Arg
ENST00000640813.1:c.*15G>C	ENSP00000491061.1:n.*15G>C
ENST00000648026.1:c.672G>C	ENSP00000498044.1:n.672G>C
ENST00000648374.1:c.727G>C	ENSP00000497255.1:p.Gly243Arg
ENST00000649823.1:n.1235G>C
ENST00000650101.1:c.709G>C	ENSP00000496970.1:p.Gly237Arg
ENST00000650307.1:n.1604G>C
ENST00000652429.1:c.778G>C MANE Select	ENSP00000498786.1:p.Gly260Arg
ENST00000278715.7:c.778G>C	ENSP00000278715.3:p.Gly260Arg
ENST00000392841.1:c.727G>C	ENSP00000376584.1:p.Gly243Arg
ENST00000442944.6:c.727G>C	ENSP00000392041.2:p.Gly243Arg
ENST00000537841.5:c.727G>C	ENSP00000444730.1:p.Gly243Arg
ENST00000539045.1:n.154G>C
ENST00000542044.5:n.1223G>C
ENST00000542729.5:c.607G>C	ENSP00000443058.1:p.Gly203Arg
ENST00000543090.5:c.685G>C	ENSP00000445429.1:p.Gly229Arg
ENST00000543543.5:n.1253G>C
ENST00000544182.1:n.1227G>C
ENST00000544387.5:c.658G>C	ENSP00000438424.1:p.Gly220Arg
ENST00000546226.5:n.1540G>C
NM_000190.3:c.778G>C	NP_000181.2:p.Gly260Arg
NM_001024382.1:c.727G>C	NP_001019553.1:p.Gly243Arg
NM_001258208.1:c.658G>C	NP_001245137.1:p.Gly220Arg
NM_001258209.1:c.607G>C	NP_001245138.1:p.Gly203Arg
XM_005271531.1:c.727G>C	XP_005271588.1:p.Gly243Arg
XM_005271532.1:c.727G>C	XP_005271589.1:p.Gly243Arg
XM_005271533.2:c.724G>C	XP_005271590.1:p.Gly242Arg
XM_011542796.1:c.613G>C	XP_011541098.1:p.Gly205Arg
NM_000190.4:c.778G>C MANE Select	NP_000181.2:p.Gly260Arg
NM_001024382.2:c.727G>C	NP_001019553.1:p.Gly243Arg
XM_005271533.3:c.724G>C	XP_005271590.1:p.Gly242Arg
XM_017017629.1:c.727G>C	XP_016873118.1:p.Gly243Arg
XM_024448460.1:c.604G>C	XP_024304228.1:p.Gly202Arg
NM_001258208.2:c.658G>C	NP_001245137.1:p.Gly220Arg
NM_001258209.2:c.607G>C	NP_001245138.1:p.Gly203Arg