Canonical Allele Identifier: CA382899967

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963955A>C (hg19) ; chr11:g.119093245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093245A>C , CM000673.2:g.119093245A>C	GRCh38
NC_000011.9:g.118963955A>C , CM000673.1:g.118963955A>C	GRCh37
NC_000011.8:g.118469165A>C	NCBI36
NG_008093.1:g.13369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.883A>C	ENSP00000509288.1:p.Ile295Leu
ENST00000691144.1:n.3263A>C
ENST00000691249.1:n.1872A>C
ENST00000442944.7:c.1030A>C	ENSP00000392041.3:p.Ile344Leu
ENST00000640813.1:c.*285A>C	ENSP00000491061.1:n.*285A>C
ENST00000648026.1:c.942A>C	ENSP00000498044.1:n.942A>C
ENST00000648374.1:c.997A>C	ENSP00000497255.1:p.Ile333Leu
ENST00000650101.1:c.979A>C	ENSP00000496970.1:p.Ile327Leu
ENST00000650307.1:n.1874A>C
ENST00000652429.1:c.1048A>C MANE Select	ENSP00000498786.1:p.Ile350Leu
ENST00000278715.7:c.1048A>C	ENSP00000278715.3:p.Ile350Leu
ENST00000392841.1:c.997A>C	ENSP00000376584.1:p.Ile333Leu
ENST00000442944.6:c.997A>C	ENSP00000392041.2:p.Ile333Leu
ENST00000537841.5:c.997A>C	ENSP00000444730.1:p.Ile333Leu
ENST00000539045.1:n.547A>C
ENST00000542044.5:n.1493A>C
ENST00000542729.5:c.877A>C	ENSP00000443058.1:p.Ile293Leu
ENST00000543090.5:c.955A>C	ENSP00000445429.1:p.Ile319Leu
ENST00000543543.5:n.1523A>C
ENST00000544182.1:n.1497A>C
ENST00000544387.5:c.928A>C	ENSP00000438424.1:p.Ile310Leu
ENST00000546226.5:n.1810A>C
NM_000190.3:c.1048A>C	NP_000181.2:p.Ile350Leu
NM_001024382.1:c.997A>C	NP_001019553.1:p.Ile333Leu
NM_001258208.1:c.928A>C	NP_001245137.1:p.Ile310Leu
NM_001258209.1:c.877A>C	NP_001245138.1:p.Ile293Leu
XM_005271531.1:c.997A>C	XP_005271588.1:p.Ile333Leu
XM_005271532.1:c.997A>C	XP_005271589.1:p.Ile333Leu
XM_005271533.2:c.994A>C	XP_005271590.1:p.Ile332Leu
XM_011542796.1:c.883A>C	XP_011541098.1:p.Ile295Leu
NM_000190.4:c.1048A>C MANE Select	NP_000181.2:p.Ile350Leu
NM_001024382.2:c.997A>C	NP_001019553.1:p.Ile333Leu
XM_005271533.3:c.994A>C	XP_005271590.1:p.Ile332Leu
XM_017017629.1:c.997A>C	XP_016873118.1:p.Ile333Leu
XM_024448460.1:c.874A>C	XP_024304228.1:p.Ile292Leu
NM_001258208.2:c.928A>C	NP_001245137.1:p.Ile310Leu
NM_001258209.2:c.877A>C	NP_001245138.1:p.Ile293Leu