Canonical Allele Identifier: CA2616355894

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093521-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093521T>C , CM000673.2:g.119093521T>C	GRCh38
NC_000011.9:g.118964231T>C , CM000673.1:g.118964231T>C	GRCh37
NC_000011.8:g.118469441T>C	NCBI36
NG_008093.1:g.13645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*238T>C	ENSP00000509288.1:n.*238T>C
ENST00000691144.1:n.3539T>C
ENST00000691249.1:n.2148T>C
ENST00000648374.1:c.*238T>C	ENSP00000497255.1:n.*238T>C
ENST00000652429.1:c.*238T>C MANE Select	ENSP00000498786.1:n.*238T>C
ENST00000278715.7:c.*238T>C	ENSP00000278715.3:n.*238T>C
ENST00000392841.1:c.*238T>C	ENSP00000376584.1:n.*238T>C
ENST00000442944.6:c.*238T>C	ENSP00000392041.2:n.*238T>C
ENST00000539045.1:n.823T>C
ENST00000542729.5:c.*238T>C	ENSP00000443058.1:n.*238T>C
ENST00000543090.5:c.*238T>C	ENSP00000445429.1:n.*238T>C
ENST00000544387.5:c.*238T>C	ENSP00000438424.1:n.*238T>C
ENST00000546226.5:n.2086T>C
NM_000190.3:c.*238T>C	NP_000181.2:n.*238T>C
NM_001024382.1:c.*238T>C	NP_001019553.1:n.*238T>C
NM_001258208.1:c.*238T>C	NP_001245137.1:n.*238T>C
NM_001258209.1:c.*238T>C	NP_001245138.1:n.*238T>C
XM_005271531.1:c.*238T>C	XP_005271588.1:n.*238T>C
XM_005271532.1:c.*238T>C	XP_005271589.1:n.*238T>C
XM_005271533.2:c.*238T>C	XP_005271590.1:n.*238T>C
XM_011542796.1:c.*238T>C	XP_011541098.1:n.*238T>C
NM_000190.4:c.*238T>C MANE Select	NP_000181.2:n.*238T>C
NM_001024382.2:c.*238T>C	NP_001019553.1:n.*238T>C
XM_005271533.3:c.*238T>C	XP_005271590.1:n.*238T>C
XM_017017629.1:c.*238T>C	XP_016873118.1:n.*238T>C
XM_024448460.1:c.*238T>C	XP_024304228.1:n.*238T>C
NM_001258208.2:c.*238T>C	NP_001245137.1:n.*238T>C
NM_001258209.2:c.*238T>C	NP_001245138.1:n.*238T>C