Canonical Allele Identifier: CA2616352521

Gene: HMBS

Linked Data

• gnomAD v4: 11-119084948-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084948C>A , CM000673.2:g.119084948C>A	GRCh38
NC_000011.9:g.118955658C>A , CM000673.1:g.118955658C>A	GRCh37
NC_000011.8:g.118460868C>A	NCBI36
NG_008093.1:g.5072C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000442944.7:c.-86C>A	ENSP00000392041.3:n.-86C>A
ENST00000536813.6:c.-220C>A	ENSP00000438726.2:n.-220C>A
ENST00000546302.6:c.-86C>A	ENSP00000445599.1:n.-86C>A
ENST00000640813.1:c.-137C>A	ENSP00000491061.1:n.-137C>A
ENST00000652429.1:c.-86C>A MANE Select	ENSP00000498786.1:n.-86C>A
ENST00000278715.7:c.-86C>A	ENSP00000278715.3:n.-86C>A
ENST00000442944.6:c.-220C>A	ENSP00000392041.2:n.-220C>A
ENST00000535793.5:c.-86C>A	ENSP00000439904.1:n.-86C>A
ENST00000536185.5:n.83C>A
ENST00000536813.5:c.-86C>A	ENSP00000438726.1:n.-86C>A
ENST00000537841.5:c.-228C>A	ENSP00000444730.1:n.-228C>A
ENST00000542044.5:n.40C>A
ENST00000542729.5:c.-228C>A	ENSP00000443058.1:n.-228C>A
ENST00000542822.5:c.-86C>A	ENSP00000444817.1:n.-86C>A
ENST00000543090.5:c.-86C>A	ENSP00000445429.1:n.-86C>A
ENST00000543821.5:n.61C>A
ENST00000544387.5:c.-86C>A	ENSP00000438424.1:n.-86C>A
ENST00000545621.5:c.-86C>A	ENSP00000444849.1:n.-86C>A
ENST00000545901.5:n.68C>A
ENST00000546302.5:c.-86C>A	ENSP00000445599.1:n.-86C>A
NM_000190.3:c.-86C>A	NP_000181.2:n.-86C>A
NM_001258208.1:c.-86C>A	NP_001245137.1:n.-86C>A
NM_001258209.1:c.-228C>A	NP_001245138.1:n.-228C>A
XM_005271531.1:c.-228C>A	XP_005271588.1:n.-228C>A
XM_005271532.1:c.-204C>A	XP_005271589.1:n.-204C>A
XM_005271533.2:c.-86C>A	XP_005271590.1:n.-86C>A
NM_000190.4:c.-86C>A MANE Select	NP_000181.2:n.-86C>A
XM_005271533.3:c.-86C>A	XP_005271590.1:n.-86C>A
XM_024448460.1:c.-86C>A	XP_024304228.1:n.-86C>A
NM_001258208.2:c.-86C>A	NP_001245137.1:n.-86C>A
NM_001258209.2:c.-228C>A	NP_001245138.1:n.-228C>A