Canonical Allele Identifier: CA382897524

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963163T>A (hg19) ; chr11:g.119092453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092453T>A , CM000673.2:g.119092453T>A	GRCh38
NC_000011.9:g.118963163T>A , CM000673.1:g.118963163T>A	GRCh37
NC_000011.8:g.118468373T>A	NCBI36
NG_008093.1:g.12577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.536T>A	ENSP00000509288.1:p.Leu179Gln
ENST00000691144.1:n.2682T>A
ENST00000691249.1:n.1525T>A
ENST00000442944.7:c.683T>A	ENSP00000392041.3:p.Leu228Gln
ENST00000536813.6:c.650T>A	ENSP00000438726.2:p.Leu217Gln
ENST00000640813.1:c.511T>A	ENSP00000491061.1:p.Trp171Arg
ENST00000648026.1:c.595T>A	ENSP00000498044.1:p.Trp199Arg
ENST00000648374.1:c.650T>A	ENSP00000497255.1:p.Leu217Gln
ENST00000649823.1:n.1158T>A
ENST00000650101.1:c.632T>A	ENSP00000496970.1:p.Leu211Gln
ENST00000650307.1:n.1527T>A
ENST00000652429.1:c.701T>A MANE Select	ENSP00000498786.1:p.Leu234Gln
ENST00000278715.7:c.701T>A	ENSP00000278715.3:p.Leu234Gln
ENST00000392841.1:c.650T>A	ENSP00000376584.1:p.Leu217Gln
ENST00000442944.6:c.650T>A	ENSP00000392041.2:p.Leu217Gln
ENST00000537841.5:c.650T>A	ENSP00000444730.1:p.Leu217Gln
ENST00000542044.5:n.1146T>A
ENST00000542729.5:c.600+290T>A	ENSP00000443058.1:n.600+290T>A
ENST00000543090.5:c.608T>A	ENSP00000445429.1:p.Leu203Gln
ENST00000543543.5:n.1176T>A
ENST00000544182.1:n.916T>A
ENST00000544387.5:c.651+290T>A	ENSP00000438424.1:n.651+290T>A
ENST00000545621.5:c.*836T>A	ENSP00000444849.1:n.*836T>A
ENST00000546226.5:n.1229T>A
NM_000190.3:c.701T>A	NP_000181.2:p.Leu234Gln
NM_001024382.1:c.650T>A	NP_001019553.1:p.Leu217Gln
NM_001258208.1:c.651+290T>A	NP_001245137.1:n.651+290T>A
NM_001258209.1:c.600+290T>A	NP_001245138.1:n.600+290T>A
XM_005271531.1:c.650T>A	XP_005271588.1:p.Leu217Gln
XM_005271532.1:c.650T>A	XP_005271589.1:p.Leu217Gln
XM_005271533.2:c.647T>A	XP_005271590.1:p.Leu216Gln
XM_011542796.1:c.536T>A	XP_011541098.1:p.Leu179Gln
NM_000190.4:c.701T>A MANE Select	NP_000181.2:p.Leu234Gln
NM_001024382.2:c.650T>A	NP_001019553.1:p.Leu217Gln
XM_005271533.3:c.647T>A	XP_005271590.1:p.Leu216Gln
XM_017017629.1:c.650T>A	XP_016873118.1:p.Leu217Gln
XM_024448460.1:c.597+290T>A	XP_024304228.1:n.597+290T>A
NM_001258208.2:c.651+290T>A	NP_001245137.1:n.651+290T>A
NM_001258209.2:c.600+290T>A	NP_001245138.1:n.600+290T>A