Canonical Allele Identifier: CA229644093

Gene: HMBS

Linked Data

• dbSNP Id: rs958142961
• gnomAD v2: 11-118955619-G-A
• gnomAD v3: 11-119084909-G-A
• gnomAD v4: 11-119084909-G-A
• MyVariant Identifiers: chr11:g.118955619G>A (hg19) ; chr11:g.119084909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084909G>A , CM000673.2:g.119084909G>A	GRCh38
NC_000011.9:g.118955619G>A , CM000673.1:g.118955619G>A	GRCh37
NC_000011.8:g.118460829G>A	NCBI36
NG_008093.1:g.5033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-125G>A	ENSP00000392041.3:n.-125G>A
ENST00000546302.6:c.-125G>A	ENSP00000445599.1:n.-125G>A
ENST00000640813.1:c.-176G>A	ENSP00000491061.1:n.-176G>A
ENST00000652429.1:c.-125G>A MANE Select	ENSP00000498786.1:n.-125G>A
ENST00000278715.7:c.-125G>A	ENSP00000278715.3:n.-125G>A
ENST00000442944.6:c.-259G>A	ENSP00000392041.2:n.-259G>A
ENST00000536185.5:n.44G>A
ENST00000536813.5:c.-125G>A	ENSP00000438726.1:n.-125G>A
ENST00000537841.5:c.-267G>A	ENSP00000444730.1:n.-267G>A
ENST00000542044.5:n.1G>A
ENST00000542729.5:c.-267G>A	ENSP00000443058.1:n.-267G>A
ENST00000542822.5:c.-125G>A	ENSP00000444817.1:n.-125G>A
ENST00000543821.5:n.22G>A
ENST00000545621.5:c.-125G>A	ENSP00000444849.1:n.-125G>A
ENST00000545901.5:n.29G>A
ENST00000546302.5:c.-125G>A	ENSP00000445599.1:n.-125G>A
NM_000190.3:c.-125G>A	NP_000181.2:n.-125G>A
NM_001258208.1:c.-125G>A	NP_001245137.1:n.-125G>A
NM_001258209.1:c.-267G>A	NP_001245138.1:n.-267G>A
XM_005271531.1:c.-267G>A	XP_005271588.1:n.-267G>A
XM_005271532.1:c.-243G>A	XP_005271589.1:n.-243G>A
XM_005271533.2:c.-125G>A	XP_005271590.1:n.-125G>A
NM_000190.4:c.-125G>A MANE Select	NP_000181.2:n.-125G>A
XM_005271533.3:c.-125G>A	XP_005271590.1:n.-125G>A
XM_024448460.1:c.-125G>A	XP_024304228.1:n.-125G>A
NM_001258208.2:c.-125G>A	NP_001245137.1:n.-125G>A
NM_001258209.2:c.-267G>A	NP_001245138.1:n.-267G>A