Canonical Allele Identifier: CA2616352367

Gene: HMBS

Linked Data

• gnomAD v4: 11-119084878-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084878C>T , CM000673.2:g.119084878C>T	GRCh38
NC_000011.9:g.118955588C>T , CM000673.1:g.118955588C>T	GRCh37
NC_000011.8:g.118460798C>T	NCBI36
NG_008093.1:g.5002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536185.5:n.13C>T
NM_000190.3:c.-156C>T	NP_000181.2:n.-156C>T
NM_001258208.1:c.-156C>T	NP_001245137.1:n.-156C>T
NM_001258209.1:c.-298C>T	NP_001245138.1:n.-298C>T
XM_005271533.2:c.-156C>T	XP_005271590.1:n.-156C>T
XM_005271533.3:c.-156C>T	XP_005271590.1:n.-156C>T
XM_024448460.1:c.-156C>T	XP_024304228.1:n.-156C>T