Canonical Allele Identifier: CA942777565

Gene: HMBS

Linked Data

• dbSNP Id: rs1355242743
• gnomAD v3: 11-119084890-G-A
• gnomAD v4: 11-119084890-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084890G>A , CM000673.2:g.119084890G>A	GRCh38
NC_000011.9:g.118955600G>A , CM000673.1:g.118955600G>A	GRCh37
NC_000011.8:g.118460810G>A	NCBI36
NG_008093.1:g.5014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-144G>A	ENSP00000392041.3:n.-144G>A
ENST00000652429.1:c.-144G>A MANE Select	ENSP00000498786.1:n.-144G>A
ENST00000278715.7:c.-144G>A	ENSP00000278715.3:n.-144G>A
ENST00000536185.5:n.25G>A
ENST00000536813.5:c.-144G>A	ENSP00000438726.1:n.-144G>A
ENST00000537841.5:c.-286G>A	ENSP00000444730.1:n.-286G>A
ENST00000542729.5:c.-286G>A	ENSP00000443058.1:n.-286G>A
ENST00000543821.5:n.3G>A
ENST00000545621.5:c.-144G>A	ENSP00000444849.1:n.-144G>A
ENST00000545901.5:n.10G>A
NM_000190.3:c.-144G>A	NP_000181.2:n.-144G>A
NM_001258208.1:c.-144G>A	NP_001245137.1:n.-144G>A
NM_001258209.1:c.-286G>A	NP_001245138.1:n.-286G>A
XM_005271531.1:c.-286G>A	XP_005271588.1:n.-286G>A
XM_005271532.1:c.-262G>A	XP_005271589.1:n.-262G>A
XM_005271533.2:c.-144G>A	XP_005271590.1:n.-144G>A
NM_000190.4:c.-144G>A MANE Select	NP_000181.2:n.-144G>A
XM_005271533.3:c.-144G>A	XP_005271590.1:n.-144G>A
XM_024448460.1:c.-144G>A	XP_024304228.1:n.-144G>A
NM_001258208.2:c.-144G>A	NP_001245137.1:n.-144G>A
NM_001258209.2:c.-286G>A	NP_001245138.1:n.-286G>A