Canonical Allele Identifier: CA2003794011

Gene: HMBS

Linked Data

• dbSNP Id: rs1946337724

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093518C>T , CM000673.2:g.119093518C>T	GRCh38
NC_000011.9:g.118964228C>T , CM000673.1:g.118964228C>T	GRCh37
NC_000011.8:g.118469438C>T	NCBI36
NG_008093.1:g.13642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*235C>T	ENSP00000509288.1:n.*235C>T
ENST00000691144.1:n.3536C>T
ENST00000691249.1:n.2145C>T
ENST00000648374.1:c.*235C>T	ENSP00000497255.1:n.*235C>T
ENST00000652429.1:c.*235C>T MANE Select	ENSP00000498786.1:n.*235C>T
ENST00000278715.7:c.*235C>T	ENSP00000278715.3:n.*235C>T
ENST00000392841.1:c.*235C>T	ENSP00000376584.1:n.*235C>T
ENST00000442944.6:c.*235C>T	ENSP00000392041.2:n.*235C>T
ENST00000539045.1:n.820C>T
ENST00000542729.5:c.*235C>T	ENSP00000443058.1:n.*235C>T
ENST00000543090.5:c.*235C>T	ENSP00000445429.1:n.*235C>T
ENST00000543543.5:n.1796C>T
ENST00000544387.5:c.*235C>T	ENSP00000438424.1:n.*235C>T
ENST00000546226.5:n.2083C>T
NM_000190.3:c.*235C>T	NP_000181.2:n.*235C>T
NM_001024382.1:c.*235C>T	NP_001019553.1:n.*235C>T
NM_001258208.1:c.*235C>T	NP_001245137.1:n.*235C>T
NM_001258209.1:c.*235C>T	NP_001245138.1:n.*235C>T
XM_005271531.1:c.*235C>T	XP_005271588.1:n.*235C>T
XM_005271532.1:c.*235C>T	XP_005271589.1:n.*235C>T
XM_005271533.2:c.*235C>T	XP_005271590.1:n.*235C>T
XM_011542796.1:c.*235C>T	XP_011541098.1:n.*235C>T
NM_000190.4:c.*235C>T MANE Select	NP_000181.2:n.*235C>T
NM_001024382.2:c.*235C>T	NP_001019553.1:n.*235C>T
XM_005271533.3:c.*235C>T	XP_005271590.1:n.*235C>T
XM_017017629.1:c.*235C>T	XP_016873118.1:n.*235C>T
XM_024448460.1:c.*235C>T	XP_024304228.1:n.*235C>T
NM_001258208.2:c.*235C>T	NP_001245137.1:n.*235C>T
NM_001258209.2:c.*235C>T	NP_001245138.1:n.*235C>T