Canonical Allele Identifier: CA2616352399

Gene: HMBS

Linked Data

• gnomAD v4: 11-119084893-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084893G>T , CM000673.2:g.119084893G>T	GRCh38
NC_000011.9:g.118955603G>T , CM000673.1:g.118955603G>T	GRCh37
NC_000011.8:g.118460813G>T	NCBI36
NG_008093.1:g.5017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-141G>T	ENSP00000392041.3:n.-141G>T
ENST00000652429.1:c.-141G>T MANE Select	ENSP00000498786.1:n.-141G>T
ENST00000278715.7:c.-141G>T	ENSP00000278715.3:n.-141G>T
ENST00000536185.5:n.28G>T
ENST00000536813.5:c.-141G>T	ENSP00000438726.1:n.-141G>T
ENST00000537841.5:c.-283G>T	ENSP00000444730.1:n.-283G>T
ENST00000542729.5:c.-283G>T	ENSP00000443058.1:n.-283G>T
ENST00000543821.5:n.6G>T
ENST00000545621.5:c.-141G>T	ENSP00000444849.1:n.-141G>T
ENST00000545901.5:n.13G>T
NM_000190.3:c.-141G>T	NP_000181.2:n.-141G>T
NM_001258208.1:c.-141G>T	NP_001245137.1:n.-141G>T
NM_001258209.1:c.-283G>T	NP_001245138.1:n.-283G>T
XM_005271531.1:c.-283G>T	XP_005271588.1:n.-283G>T
XM_005271532.1:c.-259G>T	XP_005271589.1:n.-259G>T
XM_005271533.2:c.-141G>T	XP_005271590.1:n.-141G>T
NM_000190.4:c.-141G>T MANE Select	NP_000181.2:n.-141G>T
XM_005271533.3:c.-141G>T	XP_005271590.1:n.-141G>T
XM_024448460.1:c.-141G>T	XP_024304228.1:n.-141G>T
NM_001258208.2:c.-141G>T	NP_001245137.1:n.-141G>T
NM_001258209.2:c.-283G>T	NP_001245138.1:n.-283G>T