Canonical Allele Identifier: CA382898049

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963226G>C (hg19) ; chr11:g.119092516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092516G>C , CM000673.2:g.119092516G>C	GRCh38
NC_000011.9:g.118963226G>C , CM000673.1:g.118963226G>C	GRCh37
NC_000011.8:g.118468436G>C	NCBI36
NG_008093.1:g.12640G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.599G>C	ENSP00000509288.1:p.Arg200Thr
ENST00000691144.1:n.2745G>C
ENST00000691249.1:n.1588G>C
ENST00000442944.7:c.746G>C	ENSP00000392041.3:p.Arg249Thr
ENST00000640813.1:c.*1G>C	ENSP00000491061.1:n.*1G>C
ENST00000648026.1:c.658G>C	ENSP00000498044.1:n.658G>C
ENST00000648374.1:c.713G>C	ENSP00000497255.1:p.Arg238Thr
ENST00000649823.1:n.1221G>C
ENST00000650101.1:c.695G>C	ENSP00000496970.1:p.Arg232Thr
ENST00000650307.1:n.1590G>C
ENST00000652429.1:c.764G>C MANE Select	ENSP00000498786.1:p.Arg255Thr
ENST00000278715.7:c.764G>C	ENSP00000278715.3:p.Arg255Thr
ENST00000392841.1:c.713G>C	ENSP00000376584.1:p.Arg238Thr
ENST00000442944.6:c.713G>C	ENSP00000392041.2:p.Arg238Thr
ENST00000537841.5:c.713G>C	ENSP00000444730.1:p.Arg238Thr
ENST00000542044.5:n.1209G>C
ENST00000542729.5:c.601-242G>C	ENSP00000443058.1:n.601-242G>C
ENST00000543090.5:c.671G>C	ENSP00000445429.1:p.Arg224Thr
ENST00000543543.5:n.1239G>C
ENST00000544182.1:n.979G>C
ENST00000544387.5:c.652-242G>C	ENSP00000438424.1:n.652-242G>C
ENST00000546226.5:n.1292G>C
NM_000190.3:c.764G>C	NP_000181.2:p.Arg255Thr
NM_001024382.1:c.713G>C	NP_001019553.1:p.Arg238Thr
NM_001258208.1:c.652-242G>C	NP_001245137.1:n.652-242G>C
NM_001258209.1:c.601-242G>C	NP_001245138.1:n.601-242G>C
XM_005271531.1:c.713G>C	XP_005271588.1:p.Arg238Thr
XM_005271532.1:c.713G>C	XP_005271589.1:p.Arg238Thr
XM_005271533.2:c.710G>C	XP_005271590.1:p.Arg237Thr
XM_011542796.1:c.599G>C	XP_011541098.1:p.Arg200Thr
NM_000190.4:c.764G>C MANE Select	NP_000181.2:p.Arg255Thr
NM_001024382.2:c.713G>C	NP_001019553.1:p.Arg238Thr
XM_005271533.3:c.710G>C	XP_005271590.1:p.Arg237Thr
XM_017017629.1:c.713G>C	XP_016873118.1:p.Arg238Thr
XM_024448460.1:c.598-242G>C	XP_024304228.1:n.598-242G>C
NM_001258208.2:c.652-242G>C	NP_001245137.1:n.652-242G>C
NM_001258209.2:c.601-242G>C	NP_001245138.1:n.601-242G>C