Canonical Allele Identifier: CA2616352476

Gene: HMBS

Linked Data

• gnomAD v4: 11-119084925-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084925C>T , CM000673.2:g.119084925C>T	GRCh38
NC_000011.9:g.118955635C>T , CM000673.1:g.118955635C>T	GRCh37
NC_000011.8:g.118460845C>T	NCBI36
NG_008093.1:g.5049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-109C>T	ENSP00000392041.3:n.-109C>T
ENST00000536813.6:c.-243C>T	ENSP00000438726.2:n.-243C>T
ENST00000546302.6:c.-109C>T	ENSP00000445599.1:n.-109C>T
ENST00000640813.1:c.-160C>T	ENSP00000491061.1:n.-160C>T
ENST00000652429.1:c.-109C>T MANE Select	ENSP00000498786.1:n.-109C>T
ENST00000278715.7:c.-109C>T	ENSP00000278715.3:n.-109C>T
ENST00000442944.6:c.-243C>T	ENSP00000392041.2:n.-243C>T
ENST00000535793.5:c.-109C>T	ENSP00000439904.1:n.-109C>T
ENST00000536185.5:n.60C>T
ENST00000536813.5:c.-109C>T	ENSP00000438726.1:n.-109C>T
ENST00000537841.5:c.-251C>T	ENSP00000444730.1:n.-251C>T
ENST00000542044.5:n.17C>T
ENST00000542729.5:c.-251C>T	ENSP00000443058.1:n.-251C>T
ENST00000542822.5:c.-109C>T	ENSP00000444817.1:n.-109C>T
ENST00000543821.5:n.38C>T
ENST00000544387.5:c.-109C>T	ENSP00000438424.1:n.-109C>T
ENST00000545621.5:c.-109C>T	ENSP00000444849.1:n.-109C>T
ENST00000545901.5:n.45C>T
ENST00000546302.5:c.-109C>T	ENSP00000445599.1:n.-109C>T
NM_000190.3:c.-109C>T	NP_000181.2:n.-109C>T
NM_001258208.1:c.-109C>T	NP_001245137.1:n.-109C>T
NM_001258209.1:c.-251C>T	NP_001245138.1:n.-251C>T
XM_005271531.1:c.-251C>T	XP_005271588.1:n.-251C>T
XM_005271532.1:c.-227C>T	XP_005271589.1:n.-227C>T
XM_005271533.2:c.-109C>T	XP_005271590.1:n.-109C>T
NM_000190.4:c.-109C>T MANE Select	NP_000181.2:n.-109C>T
XM_005271533.3:c.-109C>T	XP_005271590.1:n.-109C>T
XM_024448460.1:c.-109C>T	XP_024304228.1:n.-109C>T
NM_001258208.2:c.-109C>T	NP_001245137.1:n.-109C>T
NM_001258209.2:c.-251C>T	NP_001245138.1:n.-251C>T