Canonical Allele Identifier: CA382900019

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093252-A-G
• MyVariant Identifiers: chr11:g.118963962A>G (hg19) ; chr11:g.119093252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093252A>G , CM000673.2:g.119093252A>G	GRCh38
NC_000011.9:g.118963962A>G , CM000673.1:g.118963962A>G	GRCh37
NC_000011.8:g.118469172A>G	NCBI36
NG_008093.1:g.13376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.890A>G	ENSP00000509288.1:p.Asp297Gly
ENST00000691144.1:n.3270A>G
ENST00000691249.1:n.1879A>G
ENST00000442944.7:c.1037A>G	ENSP00000392041.3:p.Asp346Gly
ENST00000640813.1:c.*292A>G	ENSP00000491061.1:n.*292A>G
ENST00000648026.1:c.949A>G	ENSP00000498044.1:n.949A>G
ENST00000648374.1:c.1004A>G	ENSP00000497255.1:p.Asp335Gly
ENST00000650101.1:c.986A>G	ENSP00000496970.1:p.Asp329Gly
ENST00000650307.1:n.1881A>G
ENST00000652429.1:c.1055A>G MANE Select	ENSP00000498786.1:p.Asp352Gly
ENST00000278715.7:c.1055A>G	ENSP00000278715.3:p.Asp352Gly
ENST00000392841.1:c.1004A>G	ENSP00000376584.1:p.Asp335Gly
ENST00000442944.6:c.1004A>G	ENSP00000392041.2:p.Asp335Gly
ENST00000537841.5:c.1004A>G	ENSP00000444730.1:p.Asp335Gly
ENST00000539045.1:n.554A>G
ENST00000542044.5:n.1500A>G
ENST00000542729.5:c.884A>G	ENSP00000443058.1:p.Asp295Gly
ENST00000543090.5:c.962A>G	ENSP00000445429.1:p.Asp321Gly
ENST00000543543.5:n.1530A>G
ENST00000544182.1:n.1504A>G
ENST00000544387.5:c.935A>G	ENSP00000438424.1:p.Asp312Gly
ENST00000546226.5:n.1817A>G
NM_000190.3:c.1055A>G	NP_000181.2:p.Asp352Gly
NM_001024382.1:c.1004A>G	NP_001019553.1:p.Asp335Gly
NM_001258208.1:c.935A>G	NP_001245137.1:p.Asp312Gly
NM_001258209.1:c.884A>G	NP_001245138.1:p.Asp295Gly
XM_005271531.1:c.1004A>G	XP_005271588.1:p.Asp335Gly
XM_005271532.1:c.1004A>G	XP_005271589.1:p.Asp335Gly
XM_005271533.2:c.1001A>G	XP_005271590.1:p.Asp334Gly
XM_011542796.1:c.890A>G	XP_011541098.1:p.Asp297Gly
NM_000190.4:c.1055A>G MANE Select	NP_000181.2:p.Asp352Gly
NM_001024382.2:c.1004A>G	NP_001019553.1:p.Asp335Gly
XM_005271533.3:c.1001A>G	XP_005271590.1:p.Asp334Gly
XM_017017629.1:c.1004A>G	XP_016873118.1:p.Asp335Gly
XM_024448460.1:c.881A>G	XP_024304228.1:p.Asp294Gly
NM_001258208.2:c.935A>G	NP_001245137.1:p.Asp312Gly
NM_001258209.2:c.884A>G	NP_001245138.1:p.Asp295Gly