Canonical Allele Identifier: CA382899249

Gene: HMBS

Linked Data

• dbSNP Id: rs1373310049
• gnomAD v2: 11-118963857-G-A
• gnomAD v3: 11-119093147-G-A
• gnomAD v4: 11-119093147-G-A
• MyVariant Identifiers: chr11:g.118963857G>A (hg19) ; chr11:g.119093147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093147G>A , CM000673.2:g.119093147G>A	GRCh38
NC_000011.9:g.118963857G>A , CM000673.1:g.118963857G>A	GRCh37
NC_000011.8:g.118469067G>A	NCBI36
NG_008093.1:g.13271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.785G>A	ENSP00000509288.1:p.Gly262Asp
ENST00000691144.1:n.3165G>A
ENST00000691249.1:n.1774G>A
ENST00000442944.7:c.932G>A	ENSP00000392041.3:p.Gly311Asp
ENST00000640813.1:c.*187G>A	ENSP00000491061.1:n.*187G>A
ENST00000648026.1:c.844G>A	ENSP00000498044.1:n.844G>A
ENST00000648374.1:c.899G>A	ENSP00000497255.1:p.Gly300Asp
ENST00000650101.1:c.881G>A	ENSP00000496970.1:p.Gly294Asp
ENST00000650307.1:n.1776G>A
ENST00000652429.1:c.950G>A MANE Select	ENSP00000498786.1:p.Gly317Asp
ENST00000278715.7:c.950G>A	ENSP00000278715.3:p.Gly317Asp
ENST00000392841.1:c.899G>A	ENSP00000376584.1:p.Gly300Asp
ENST00000442944.6:c.899G>A	ENSP00000392041.2:p.Gly300Asp
ENST00000537841.5:c.899G>A	ENSP00000444730.1:p.Gly300Asp
ENST00000539045.1:n.449G>A
ENST00000542044.5:n.1395G>A
ENST00000542729.5:c.779G>A	ENSP00000443058.1:p.Gly260Asp
ENST00000543090.5:c.857G>A	ENSP00000445429.1:p.Gly286Asp
ENST00000543543.5:n.1425G>A
ENST00000544182.1:n.1399G>A
ENST00000544387.5:c.830G>A	ENSP00000438424.1:p.Gly277Asp
ENST00000546226.5:n.1712G>A
NM_000190.3:c.950G>A	NP_000181.2:p.Gly317Asp
NM_001024382.1:c.899G>A	NP_001019553.1:p.Gly300Asp
NM_001258208.1:c.830G>A	NP_001245137.1:p.Gly277Asp
NM_001258209.1:c.779G>A	NP_001245138.1:p.Gly260Asp
XM_005271531.1:c.899G>A	XP_005271588.1:p.Gly300Asp
XM_005271532.1:c.899G>A	XP_005271589.1:p.Gly300Asp
XM_005271533.2:c.896G>A	XP_005271590.1:p.Gly299Asp
XM_011542796.1:c.785G>A	XP_011541098.1:p.Gly262Asp
NM_000190.4:c.950G>A MANE Select	NP_000181.2:p.Gly317Asp
NM_001024382.2:c.899G>A	NP_001019553.1:p.Gly300Asp
XM_005271533.3:c.896G>A	XP_005271590.1:p.Gly299Asp
XM_017017629.1:c.899G>A	XP_016873118.1:p.Gly300Asp
XM_024448460.1:c.776G>A	XP_024304228.1:p.Gly259Asp
NM_001258208.2:c.830G>A	NP_001245137.1:p.Gly277Asp
NM_001258209.2:c.779G>A	NP_001245138.1:p.Gly260Asp