Canonical Allele Identifier: CA6314013

Gene: HMBS

Linked Data

• dbSNP Id: rs748595119
• ExAC: 11:118960458 G / C
• gnomAD v2: 11-118960458-G-C
• gnomAD v4: 11-119089748-G-C
• MyVariant Identifiers: chr11:g.118960458G>C (hg19) ; chr11:g.119089748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089748G>C , CM000673.2:g.119089748G>C	GRCh38
NC_000011.9:g.118960458G>C , CM000673.1:g.118960458G>C	GRCh37
NC_000011.8:g.118465668G>C	NCBI36
NG_008093.1:g.9872G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.167G>C	ENSP00000509288.1:p.Gly56Ala
ENST00000686690.1:n.953G>C
ENST00000691144.1:n.2073G>C
ENST00000691249.1:n.916G>C
ENST00000442944.7:c.314G>C	ENSP00000392041.3:p.Gly105Ala
ENST00000534956.2:n.281G>C
ENST00000536813.6:c.281G>C	ENSP00000438726.2:p.Gly94Ala
ENST00000546302.6:c.267-242G>C	ENSP00000445599.1:n.267-242G>C
ENST00000640813.1:c.281G>C	ENSP00000491061.1:p.Gly94Ala
ENST00000648026.1:c.326G>C	ENSP00000498044.1:p.Gly109Ala
ENST00000648374.1:c.281G>C	ENSP00000497255.1:p.Gly94Ala
ENST00000648488.1:c.281G>C	ENSP00000498079.1:p.Gly94Ala
ENST00000649823.1:n.549G>C
ENST00000649868.1:c.*40G>C	ENSP00000497548.1:n.*40G>C
ENST00000650101.1:c.263G>C	ENSP00000496970.1:p.Gly88Ala
ENST00000650307.1:n.1158G>C
ENST00000652429.1:c.332G>C MANE Select	ENSP00000498786.1:p.Gly111Ala
ENST00000278715.7:c.332G>C	ENSP00000278715.3:p.Gly111Ala
ENST00000392841.1:c.281G>C	ENSP00000376584.1:p.Gly94Ala
ENST00000442944.6:c.281G>C	ENSP00000392041.2:p.Gly94Ala
ENST00000534956.1:n.248G>C
ENST00000535253.5:c.281G>C	ENSP00000442079.1:p.Gly94Ala
ENST00000535793.5:c.*227G>C	ENSP00000439904.1:n.*227G>C
ENST00000536813.5:c.314G>C	ENSP00000438726.1:p.Gly105Ala
ENST00000537841.5:c.281G>C	ENSP00000444730.1:p.Gly94Ala
ENST00000539986.5:c.281G>C	ENSP00000440092.1:p.Gly94Ala
ENST00000542044.5:n.777G>C
ENST00000542345.5:n.470G>C
ENST00000542729.5:c.281G>C	ENSP00000443058.1:p.Gly94Ala
ENST00000542822.5:c.*268G>C	ENSP00000444817.1:n.*268G>C
ENST00000543090.5:c.278G>C	ENSP00000445429.1:p.Gly93Ala
ENST00000543543.5:n.567G>C
ENST00000543821.5:n.478G>C
ENST00000544360.5:n.300G>C
ENST00000544387.5:c.332G>C	ENSP00000438424.1:p.Gly111Ala
ENST00000545621.5:c.*227G>C	ENSP00000444849.1:n.*227G>C
ENST00000546226.5:n.391G>C
ENST00000546302.5:c.267-242G>C	ENSP00000445599.1:n.267-242G>C
NM_000190.3:c.332G>C	NP_000181.2:p.Gly111Ala
NM_001024382.1:c.281G>C	NP_001019553.1:p.Gly94Ala
NM_001258208.1:c.332G>C	NP_001245137.1:p.Gly111Ala
NM_001258209.1:c.281G>C	NP_001245138.1:p.Gly94Ala
XM_005271531.1:c.281G>C	XP_005271588.1:p.Gly94Ala
XM_005271532.1:c.281G>C	XP_005271589.1:p.Gly94Ala
XM_005271533.2:c.278G>C	XP_005271590.1:p.Gly93Ala
XM_011542796.1:c.167G>C	XP_011541098.1:p.Gly56Ala
NM_000190.4:c.332G>C MANE Select	NP_000181.2:p.Gly111Ala
NM_001024382.2:c.281G>C	NP_001019553.1:p.Gly94Ala
XM_005271533.3:c.278G>C	XP_005271590.1:p.Gly93Ala
XM_017017629.1:c.281G>C	XP_016873118.1:p.Gly94Ala
XM_024448460.1:c.278G>C	XP_024304228.1:p.Gly93Ala
NM_001258208.2:c.332G>C	NP_001245137.1:p.Gly111Ala
NM_001258209.2:c.281G>C	NP_001245138.1:p.Gly94Ala