Canonical Allele Identifier: CA2003780558

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085045C= , CM000673.2:g.119085045C=	GRCh38
NC_000011.9:g.118955755C= , CM000673.1:g.118955755C=	GRCh37
NC_000011.8:g.118460965C=	NCBI36
NG_008093.1:g.5169C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.12C=	ENSP00000392041.3:p.Asn4=
ENST00000534956.2:n.15C=
ENST00000536813.6:c.-123C=	ENSP00000438726.2:n.-123C=
ENST00000546302.6:c.12C=	ENSP00000445599.1:p.Asn4=
ENST00000640813.1:c.-40C=	ENSP00000491061.1:n.-40C=
ENST00000648026.1:c.6C=	ENSP00000498044.1:p.Asn2=
ENST00000649868.1:c.12C=	ENSP00000497548.1:p.Asn4=
ENST00000652429.1:c.12C= MANE Select	ENSP00000498786.1:p.Asn4=
ENST00000278715.7:c.12C=	ENSP00000278715.3:p.Asn4=
ENST00000442944.6:c.-123C=	ENSP00000392041.2:n.-123C=
ENST00000535793.5:c.12C=	ENSP00000439904.1:p.Asn4=
ENST00000536185.5:n.180C=
ENST00000536813.5:c.12C=	ENSP00000438726.1:p.Asn4=
ENST00000537841.5:c.-131C=	ENSP00000444730.1:n.-131C=
ENST00000542044.5:n.137C=
ENST00000542729.5:c.-131C=	ENSP00000443058.1:n.-131C=
ENST00000542822.5:c.12C=	ENSP00000444817.1:p.Asn4=
ENST00000543090.5:c.12C=	ENSP00000445429.1:p.Asn4=
ENST00000543821.5:n.158C=
ENST00000544387.5:c.12C=	ENSP00000438424.1:p.Asn4=
ENST00000545621.5:c.12C=	ENSP00000444849.1:p.Asn4=
ENST00000545901.5:n.165C=
ENST00000546302.5:c.12C=	ENSP00000445599.1:p.Asn4=
NM_000190.3:c.12C=	NP_000181.2:p.Asn4=
NM_001258208.1:c.12C=	NP_001245137.1:p.Asn4=
NM_001258209.1:c.-131C=	NP_001245138.1:n.-131C=
XM_005271531.1:c.-131C=	XP_005271588.1:n.-131C=
XM_005271532.1:c.-107C=	XP_005271589.1:n.-107C=
XM_005271533.2:c.12C=	XP_005271590.1:p.Asn4=
NM_000190.4:c.12C= MANE Select	NP_000181.2:p.Asn4=
XM_005271533.3:c.12C=	XP_005271590.1:p.Asn4=
XM_024448460.1:c.12C=	XP_024304228.1:p.Asn4=
NM_001258208.2:c.12C=	NP_001245137.1:p.Asn4=
NM_001258209.2:c.-131C=	NP_001245138.1:n.-131C=