Canonical Allele Identifier: CA229644127

Gene: HMBS

Linked Data

• dbSNP Id: rs1020972364
• gnomAD v3: 11-119084920-T-C
• gnomAD v4: 11-119084920-T-C
• MyVariant Identifiers: chr11:g.118955630T>C (hg19) ; chr11:g.119084920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084920T>C , CM000673.2:g.119084920T>C	GRCh38
NC_000011.9:g.118955630T>C , CM000673.1:g.118955630T>C	GRCh37
NC_000011.8:g.118460840T>C	NCBI36
NG_008093.1:g.5044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-114T>C	ENSP00000392041.3:n.-114T>C
ENST00000536813.6:c.-248T>C	ENSP00000438726.2:n.-248T>C
ENST00000546302.6:c.-114T>C	ENSP00000445599.1:n.-114T>C
ENST00000640813.1:c.-165T>C	ENSP00000491061.1:n.-165T>C
ENST00000652429.1:c.-114T>C MANE Select	ENSP00000498786.1:n.-114T>C
ENST00000278715.7:c.-114T>C	ENSP00000278715.3:n.-114T>C
ENST00000442944.6:c.-248T>C	ENSP00000392041.2:n.-248T>C
ENST00000535793.5:c.-114T>C	ENSP00000439904.1:n.-114T>C
ENST00000536185.5:n.55T>C
ENST00000536813.5:c.-114T>C	ENSP00000438726.1:n.-114T>C
ENST00000537841.5:c.-256T>C	ENSP00000444730.1:n.-256T>C
ENST00000542044.5:n.12T>C
ENST00000542729.5:c.-256T>C	ENSP00000443058.1:n.-256T>C
ENST00000542822.5:c.-114T>C	ENSP00000444817.1:n.-114T>C
ENST00000543821.5:n.33T>C
ENST00000544387.5:c.-114T>C	ENSP00000438424.1:n.-114T>C
ENST00000545621.5:c.-114T>C	ENSP00000444849.1:n.-114T>C
ENST00000545901.5:n.40T>C
ENST00000546302.5:c.-114T>C	ENSP00000445599.1:n.-114T>C
NM_000190.3:c.-114T>C	NP_000181.2:n.-114T>C
NM_001258208.1:c.-114T>C	NP_001245137.1:n.-114T>C
NM_001258209.1:c.-256T>C	NP_001245138.1:n.-256T>C
XM_005271531.1:c.-256T>C	XP_005271588.1:n.-256T>C
XM_005271532.1:c.-232T>C	XP_005271589.1:n.-232T>C
XM_005271533.2:c.-114T>C	XP_005271590.1:n.-114T>C
NM_000190.4:c.-114T>C MANE Select	NP_000181.2:n.-114T>C
XM_005271533.3:c.-114T>C	XP_005271590.1:n.-114T>C
XM_024448460.1:c.-114T>C	XP_024304228.1:n.-114T>C
NM_001258208.2:c.-114T>C	NP_001245137.1:n.-114T>C
NM_001258209.2:c.-256T>C	NP_001245138.1:n.-256T>C