Canonical Allele Identifier: CA382899725

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963917G>T (hg19) ; chr11:g.119093207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093207G>T , CM000673.2:g.119093207G>T	GRCh38
NC_000011.9:g.118963917G>T , CM000673.1:g.118963917G>T	GRCh37
NC_000011.8:g.118469127G>T	NCBI36
NG_008093.1:g.13331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.845G>T	ENSP00000509288.1:p.Ser282Ile
ENST00000691144.1:n.3225G>T
ENST00000691249.1:n.1834G>T
ENST00000442944.7:c.992G>T	ENSP00000392041.3:p.Ser331Ile
ENST00000640813.1:c.*247G>T	ENSP00000491061.1:n.*247G>T
ENST00000648026.1:c.904G>T	ENSP00000498044.1:n.904G>T
ENST00000648374.1:c.959G>T	ENSP00000497255.1:p.Ser320Ile
ENST00000650101.1:c.941G>T	ENSP00000496970.1:p.Ser314Ile
ENST00000650307.1:n.1836G>T
ENST00000652429.1:c.1010G>T MANE Select	ENSP00000498786.1:p.Ser337Ile
ENST00000278715.7:c.1010G>T	ENSP00000278715.3:p.Ser337Ile
ENST00000392841.1:c.959G>T	ENSP00000376584.1:p.Ser320Ile
ENST00000442944.6:c.959G>T	ENSP00000392041.2:p.Ser320Ile
ENST00000537841.5:c.959G>T	ENSP00000444730.1:p.Ser320Ile
ENST00000539045.1:n.509G>T
ENST00000542044.5:n.1455G>T
ENST00000542729.5:c.839G>T	ENSP00000443058.1:p.Ser280Ile
ENST00000543090.5:c.917G>T	ENSP00000445429.1:p.Ser306Ile
ENST00000543543.5:n.1485G>T
ENST00000544182.1:n.1459G>T
ENST00000544387.5:c.890G>T	ENSP00000438424.1:p.Ser297Ile
ENST00000546226.5:n.1772G>T
NM_000190.3:c.1010G>T	NP_000181.2:p.Ser337Ile
NM_001024382.1:c.959G>T	NP_001019553.1:p.Ser320Ile
NM_001258208.1:c.890G>T	NP_001245137.1:p.Ser297Ile
NM_001258209.1:c.839G>T	NP_001245138.1:p.Ser280Ile
XM_005271531.1:c.959G>T	XP_005271588.1:p.Ser320Ile
XM_005271532.1:c.959G>T	XP_005271589.1:p.Ser320Ile
XM_005271533.2:c.956G>T	XP_005271590.1:p.Ser319Ile
XM_011542796.1:c.845G>T	XP_011541098.1:p.Ser282Ile
NM_000190.4:c.1010G>T MANE Select	NP_000181.2:p.Ser337Ile
NM_001024382.2:c.959G>T	NP_001019553.1:p.Ser320Ile
XM_005271533.3:c.956G>T	XP_005271590.1:p.Ser319Ile
XM_017017629.1:c.959G>T	XP_016873118.1:p.Ser320Ile
XM_024448460.1:c.836G>T	XP_024304228.1:p.Ser279Ile
NM_001258208.2:c.890G>T	NP_001245137.1:p.Ser297Ile
NM_001258209.2:c.839G>T	NP_001245138.1:p.Ser280Ile