Canonical Allele Identifier: CA382899186

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963848A>T (hg19) ; chr11:g.119093138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093138A>T , CM000673.2:g.119093138A>T	GRCh38
NC_000011.9:g.118963848A>T , CM000673.1:g.118963848A>T	GRCh37
NC_000011.8:g.118469058A>T	NCBI36
NG_008093.1:g.13262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.776A>T	ENSP00000509288.1:p.Gln259Leu
ENST00000691144.1:n.3156A>T
ENST00000691249.1:n.1765A>T
ENST00000442944.7:c.923A>T	ENSP00000392041.3:p.Gln308Leu
ENST00000640813.1:c.*178A>T	ENSP00000491061.1:n.*178A>T
ENST00000648026.1:c.835A>T	ENSP00000498044.1:n.835A>T
ENST00000648374.1:c.890A>T	ENSP00000497255.1:p.Gln297Leu
ENST00000650101.1:c.872A>T	ENSP00000496970.1:p.Gln291Leu
ENST00000650307.1:n.1767A>T
ENST00000652429.1:c.941A>T MANE Select	ENSP00000498786.1:p.Gln314Leu
ENST00000278715.7:c.941A>T	ENSP00000278715.3:p.Gln314Leu
ENST00000392841.1:c.890A>T	ENSP00000376584.1:p.Gln297Leu
ENST00000442944.6:c.890A>T	ENSP00000392041.2:p.Gln297Leu
ENST00000537841.5:c.890A>T	ENSP00000444730.1:p.Gln297Leu
ENST00000539045.1:n.440A>T
ENST00000542044.5:n.1386A>T
ENST00000542729.5:c.770A>T	ENSP00000443058.1:p.Gln257Leu
ENST00000543090.5:c.848A>T	ENSP00000445429.1:p.Gln283Leu
ENST00000543543.5:n.1416A>T
ENST00000544182.1:n.1390A>T
ENST00000544387.5:c.821A>T	ENSP00000438424.1:p.Gln274Leu
ENST00000546226.5:n.1703A>T
NM_000190.3:c.941A>T	NP_000181.2:p.Gln314Leu
NM_001024382.1:c.890A>T	NP_001019553.1:p.Gln297Leu
NM_001258208.1:c.821A>T	NP_001245137.1:p.Gln274Leu
NM_001258209.1:c.770A>T	NP_001245138.1:p.Gln257Leu
XM_005271531.1:c.890A>T	XP_005271588.1:p.Gln297Leu
XM_005271532.1:c.890A>T	XP_005271589.1:p.Gln297Leu
XM_005271533.2:c.887A>T	XP_005271590.1:p.Gln296Leu
XM_011542796.1:c.776A>T	XP_011541098.1:p.Gln259Leu
NM_000190.4:c.941A>T MANE Select	NP_000181.2:p.Gln314Leu
NM_001024382.2:c.890A>T	NP_001019553.1:p.Gln297Leu
XM_005271533.3:c.887A>T	XP_005271590.1:p.Gln296Leu
XM_017017629.1:c.890A>T	XP_016873118.1:p.Gln297Leu
XM_024448460.1:c.767A>T	XP_024304228.1:p.Gln256Leu
NM_001258208.2:c.821A>T	NP_001245137.1:p.Gln274Leu
NM_001258209.2:c.770A>T	NP_001245138.1:p.Gln257Leu