Canonical Allele Identifier: CA942777567

Gene: HMBS

Linked Data

• dbSNP Id: rs1946004741
• gnomAD v3: 11-119084894-C-T
• gnomAD v4: 11-119084894-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084894C>T , CM000673.2:g.119084894C>T	GRCh38
NC_000011.9:g.118955604C>T , CM000673.1:g.118955604C>T	GRCh37
NC_000011.8:g.118460814C>T	NCBI36
NG_008093.1:g.5018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-140C>T	ENSP00000392041.3:n.-140C>T
ENST00000652429.1:c.-140C>T MANE Select	ENSP00000498786.1:n.-140C>T
ENST00000278715.7:c.-140C>T	ENSP00000278715.3:n.-140C>T
ENST00000536185.5:n.29C>T
ENST00000536813.5:c.-140C>T	ENSP00000438726.1:n.-140C>T
ENST00000537841.5:c.-282C>T	ENSP00000444730.1:n.-282C>T
ENST00000542729.5:c.-282C>T	ENSP00000443058.1:n.-282C>T
ENST00000543821.5:n.7C>T
ENST00000545621.5:c.-140C>T	ENSP00000444849.1:n.-140C>T
ENST00000545901.5:n.14C>T
NM_000190.3:c.-140C>T	NP_000181.2:n.-140C>T
NM_001258208.1:c.-140C>T	NP_001245137.1:n.-140C>T
NM_001258209.1:c.-282C>T	NP_001245138.1:n.-282C>T
XM_005271531.1:c.-282C>T	XP_005271588.1:n.-282C>T
XM_005271532.1:c.-258C>T	XP_005271589.1:n.-258C>T
XM_005271533.2:c.-140C>T	XP_005271590.1:n.-140C>T
NM_000190.4:c.-140C>T MANE Select	NP_000181.2:n.-140C>T
XM_005271533.3:c.-140C>T	XP_005271590.1:n.-140C>T
XM_024448460.1:c.-140C>T	XP_024304228.1:n.-140C>T
NM_001258208.2:c.-140C>T	NP_001245137.1:n.-140C>T
NM_001258209.2:c.-282C>T	NP_001245138.1:n.-282C>T