Canonical Allele Identifier: CA2616352525

Gene: HMBS

Linked Data

• dbSNP Id: rs2134835415
• gnomAD v4: 11-119084952-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084952A>C , CM000673.2:g.119084952A>C	GRCh38
NC_000011.9:g.118955662A>C , CM000673.1:g.118955662A>C	GRCh37
NC_000011.8:g.118460872A>C	NCBI36
NG_008093.1:g.5076A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000442944.7:c.-82A>C	ENSP00000392041.3:n.-82A>C
ENST00000536813.6:c.-216A>C	ENSP00000438726.2:n.-216A>C
ENST00000546302.6:c.-82A>C	ENSP00000445599.1:n.-82A>C
ENST00000640813.1:c.-133A>C	ENSP00000491061.1:n.-133A>C
ENST00000652429.1:c.-82A>C MANE Select	ENSP00000498786.1:n.-82A>C
ENST00000278715.7:c.-82A>C	ENSP00000278715.3:n.-82A>C
ENST00000442944.6:c.-216A>C	ENSP00000392041.2:n.-216A>C
ENST00000535793.5:c.-82A>C	ENSP00000439904.1:n.-82A>C
ENST00000536185.5:n.87A>C
ENST00000536813.5:c.-82A>C	ENSP00000438726.1:n.-82A>C
ENST00000537841.5:c.-224A>C	ENSP00000444730.1:n.-224A>C
ENST00000542044.5:n.44A>C
ENST00000542729.5:c.-224A>C	ENSP00000443058.1:n.-224A>C
ENST00000542822.5:c.-82A>C	ENSP00000444817.1:n.-82A>C
ENST00000543090.5:c.-82A>C	ENSP00000445429.1:n.-82A>C
ENST00000543821.5:n.65A>C
ENST00000544387.5:c.-82A>C	ENSP00000438424.1:n.-82A>C
ENST00000545621.5:c.-82A>C	ENSP00000444849.1:n.-82A>C
ENST00000545901.5:n.72A>C
ENST00000546302.5:c.-82A>C	ENSP00000445599.1:n.-82A>C
NM_000190.3:c.-82A>C	NP_000181.2:n.-82A>C
NM_001258208.1:c.-82A>C	NP_001245137.1:n.-82A>C
NM_001258209.1:c.-224A>C	NP_001245138.1:n.-224A>C
XM_005271531.1:c.-224A>C	XP_005271588.1:n.-224A>C
XM_005271532.1:c.-200A>C	XP_005271589.1:n.-200A>C
XM_005271533.2:c.-82A>C	XP_005271590.1:n.-82A>C
NM_000190.4:c.-82A>C MANE Select	NP_000181.2:n.-82A>C
XM_005271533.3:c.-82A>C	XP_005271590.1:n.-82A>C
XM_024448460.1:c.-82A>C	XP_024304228.1:n.-82A>C
NM_001258208.2:c.-82A>C	NP_001245137.1:n.-82A>C
NM_001258209.2:c.-224A>C	NP_001245138.1:n.-224A>C