Canonical Allele Identifier: CA382899001

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963730A>C (hg19) ; chr11:g.119093020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093020A>C , CM000673.2:g.119093020A>C	GRCh38
NC_000011.9:g.118963730A>C , CM000673.1:g.118963730A>C	GRCh37
NC_000011.8:g.118468940A>C	NCBI36
NG_008093.1:g.13144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.746A>C	ENSP00000509288.1:p.Gln249Pro
ENST00000691144.1:n.3126A>C
ENST00000691249.1:n.1735A>C
ENST00000442944.7:c.893A>C	ENSP00000392041.3:p.Gln298Pro
ENST00000640813.1:c.*148A>C	ENSP00000491061.1:n.*148A>C
ENST00000648026.1:c.805A>C	ENSP00000498044.1:n.805A>C
ENST00000648374.1:c.860A>C	ENSP00000497255.1:p.Gln287Pro
ENST00000650101.1:c.842A>C	ENSP00000496970.1:p.Gln281Pro
ENST00000650307.1:n.1737A>C
ENST00000652429.1:c.911A>C MANE Select	ENSP00000498786.1:p.Gln304Pro
ENST00000278715.7:c.911A>C	ENSP00000278715.3:p.Gln304Pro
ENST00000392841.1:c.860A>C	ENSP00000376584.1:p.Gln287Pro
ENST00000442944.6:c.860A>C	ENSP00000392041.2:p.Gln287Pro
ENST00000537841.5:c.860A>C	ENSP00000444730.1:p.Gln287Pro
ENST00000539045.1:n.410A>C
ENST00000542044.5:n.1356A>C
ENST00000542729.5:c.740A>C	ENSP00000443058.1:p.Gln247Pro
ENST00000543090.5:c.818A>C	ENSP00000445429.1:p.Gln273Pro
ENST00000543543.5:n.1386A>C
ENST00000544182.1:n.1360A>C
ENST00000544387.5:c.791A>C	ENSP00000438424.1:p.Gln264Pro
ENST00000546226.5:n.1673A>C
NM_000190.3:c.911A>C	NP_000181.2:p.Gln304Pro
NM_001024382.1:c.860A>C	NP_001019553.1:p.Gln287Pro
NM_001258208.1:c.791A>C	NP_001245137.1:p.Gln264Pro
NM_001258209.1:c.740A>C	NP_001245138.1:p.Gln247Pro
XM_005271531.1:c.860A>C	XP_005271588.1:p.Gln287Pro
XM_005271532.1:c.860A>C	XP_005271589.1:p.Gln287Pro
XM_005271533.2:c.857A>C	XP_005271590.1:p.Gln286Pro
XM_011542796.1:c.746A>C	XP_011541098.1:p.Gln249Pro
NM_000190.4:c.911A>C MANE Select	NP_000181.2:p.Gln304Pro
NM_001024382.2:c.860A>C	NP_001019553.1:p.Gln287Pro
XM_005271533.3:c.857A>C	XP_005271590.1:p.Gln286Pro
XM_017017629.1:c.860A>C	XP_016873118.1:p.Gln287Pro
XM_024448460.1:c.737A>C	XP_024304228.1:p.Gln246Pro
NM_001258208.2:c.791A>C	NP_001245137.1:p.Gln264Pro
NM_001258209.2:c.740A>C	NP_001245138.1:p.Gln247Pro