Canonical Allele Identifier: CA382899801

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963929T>C (hg19) ; chr11:g.119093219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093219T>C , CM000673.2:g.119093219T>C	GRCh38
NC_000011.9:g.118963929T>C , CM000673.1:g.118963929T>C	GRCh37
NC_000011.8:g.118469139T>C	NCBI36
NG_008093.1:g.13343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.857T>C	ENSP00000509288.1:p.Leu286Ser
ENST00000691144.1:n.3237T>C
ENST00000691249.1:n.1846T>C
ENST00000442944.7:c.1004T>C	ENSP00000392041.3:p.Leu335Ser
ENST00000640813.1:c.*259T>C	ENSP00000491061.1:n.*259T>C
ENST00000648026.1:c.916T>C	ENSP00000498044.1:n.916T>C
ENST00000648374.1:c.971T>C	ENSP00000497255.1:p.Leu324Ser
ENST00000650101.1:c.953T>C	ENSP00000496970.1:p.Leu318Ser
ENST00000650307.1:n.1848T>C
ENST00000652429.1:c.1022T>C MANE Select	ENSP00000498786.1:p.Leu341Ser
ENST00000278715.7:c.1022T>C	ENSP00000278715.3:p.Leu341Ser
ENST00000392841.1:c.971T>C	ENSP00000376584.1:p.Leu324Ser
ENST00000442944.6:c.971T>C	ENSP00000392041.2:p.Leu324Ser
ENST00000537841.5:c.971T>C	ENSP00000444730.1:p.Leu324Ser
ENST00000539045.1:n.521T>C
ENST00000542044.5:n.1467T>C
ENST00000542729.5:c.851T>C	ENSP00000443058.1:p.Leu284Ser
ENST00000543090.5:c.929T>C	ENSP00000445429.1:p.Leu310Ser
ENST00000543543.5:n.1497T>C
ENST00000544182.1:n.1471T>C
ENST00000544387.5:c.902T>C	ENSP00000438424.1:p.Leu301Ser
ENST00000546226.5:n.1784T>C
NM_000190.3:c.1022T>C	NP_000181.2:p.Leu341Ser
NM_001024382.1:c.971T>C	NP_001019553.1:p.Leu324Ser
NM_001258208.1:c.902T>C	NP_001245137.1:p.Leu301Ser
NM_001258209.1:c.851T>C	NP_001245138.1:p.Leu284Ser
XM_005271531.1:c.971T>C	XP_005271588.1:p.Leu324Ser
XM_005271532.1:c.971T>C	XP_005271589.1:p.Leu324Ser
XM_005271533.2:c.968T>C	XP_005271590.1:p.Leu323Ser
XM_011542796.1:c.857T>C	XP_011541098.1:p.Leu286Ser
NM_000190.4:c.1022T>C MANE Select	NP_000181.2:p.Leu341Ser
NM_001024382.2:c.971T>C	NP_001019553.1:p.Leu324Ser
XM_005271533.3:c.968T>C	XP_005271590.1:p.Leu323Ser
XM_017017629.1:c.971T>C	XP_016873118.1:p.Leu324Ser
XM_024448460.1:c.848T>C	XP_024304228.1:p.Leu283Ser
NM_001258208.2:c.902T>C	NP_001245137.1:p.Leu301Ser
NM_001258209.2:c.851T>C	NP_001245138.1:p.Leu284Ser