Canonical Allele Identifier: CA6314287

Gene: HMBS

Linked Data

• dbSNP Id: rs760662861
• ExAC: 11:118963835 G / C
• gnomAD v2: 11-118963835-G-C
• gnomAD v3: 11-119093125-G-C
• gnomAD v4: 11-119093125-G-C
• MyVariant Identifiers: chr11:g.118963835G>C (hg19) ; chr11:g.119093125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093125G>C , CM000673.2:g.119093125G>C	GRCh38
NC_000011.9:g.118963835G>C , CM000673.1:g.118963835G>C	GRCh37
NC_000011.8:g.118469045G>C	NCBI36
NG_008093.1:g.13249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.763G>C	ENSP00000509288.1:p.Glu255Gln
ENST00000691144.1:n.3143G>C
ENST00000691249.1:n.1752G>C
ENST00000442944.7:c.910G>C	ENSP00000392041.3:p.Glu304Gln
ENST00000640813.1:c.*165G>C	ENSP00000491061.1:n.*165G>C
ENST00000648026.1:c.822G>C	ENSP00000498044.1:n.822G>C
ENST00000648374.1:c.877G>C	ENSP00000497255.1:p.Glu293Gln
ENST00000650101.1:c.859G>C	ENSP00000496970.1:p.Glu287Gln
ENST00000650307.1:n.1754G>C
ENST00000652429.1:c.928G>C MANE Select	ENSP00000498786.1:p.Glu310Gln
ENST00000278715.7:c.928G>C	ENSP00000278715.3:p.Glu310Gln
ENST00000392841.1:c.877G>C	ENSP00000376584.1:p.Glu293Gln
ENST00000442944.6:c.877G>C	ENSP00000392041.2:p.Glu293Gln
ENST00000537841.5:c.877G>C	ENSP00000444730.1:p.Glu293Gln
ENST00000539045.1:n.427G>C
ENST00000542044.5:n.1373G>C
ENST00000542729.5:c.757G>C	ENSP00000443058.1:p.Glu253Gln
ENST00000543090.5:c.835G>C	ENSP00000445429.1:p.Glu279Gln
ENST00000543543.5:n.1403G>C
ENST00000544182.1:n.1377G>C
ENST00000544387.5:c.808G>C	ENSP00000438424.1:p.Glu270Gln
ENST00000546226.5:n.1690G>C
NM_000190.3:c.928G>C	NP_000181.2:p.Glu310Gln
NM_001024382.1:c.877G>C	NP_001019553.1:p.Glu293Gln
NM_001258208.1:c.808G>C	NP_001245137.1:p.Glu270Gln
NM_001258209.1:c.757G>C	NP_001245138.1:p.Glu253Gln
XM_005271531.1:c.877G>C	XP_005271588.1:p.Glu293Gln
XM_005271532.1:c.877G>C	XP_005271589.1:p.Glu293Gln
XM_005271533.2:c.874G>C	XP_005271590.1:p.Glu292Gln
XM_011542796.1:c.763G>C	XP_011541098.1:p.Glu255Gln
NM_000190.4:c.928G>C MANE Select	NP_000181.2:p.Glu310Gln
NM_001024382.2:c.877G>C	NP_001019553.1:p.Glu293Gln
XM_005271533.3:c.874G>C	XP_005271590.1:p.Glu292Gln
XM_017017629.1:c.877G>C	XP_016873118.1:p.Glu293Gln
XM_024448460.1:c.754G>C	XP_024304228.1:p.Glu252Gln
NM_001258208.2:c.808G>C	NP_001245137.1:p.Glu270Gln
NM_001258209.2:c.757G>C	NP_001245138.1:p.Glu253Gln