Canonical Allele Identifier: CA2003794020

Gene: HMBS

Linked Data

• dbSNP Id: rs1592222080

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093528A>G , CM000673.2:g.119093528A>G	GRCh38
NC_000011.9:g.118964238A>G , CM000673.1:g.118964238A>G	GRCh37
NC_000011.8:g.118469448A>G	NCBI36
NG_008093.1:g.13652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*245A>G	ENSP00000509288.1:n.*245A>G
ENST00000691249.1:n.2155A>G
ENST00000648374.1:c.*245A>G	ENSP00000497255.1:n.*245A>G
ENST00000652429.1:c.*245A>G MANE Select	ENSP00000498786.1:n.*245A>G
ENST00000278715.7:c.*245A>G	ENSP00000278715.3:n.*245A>G
ENST00000392841.1:c.*245A>G	ENSP00000376584.1:n.*245A>G
ENST00000442944.6:c.*245A>G	ENSP00000392041.2:n.*245A>G
ENST00000539045.1:n.830A>G
ENST00000542729.5:c.*245A>G	ENSP00000443058.1:n.*245A>G
ENST00000543090.5:c.*245A>G	ENSP00000445429.1:n.*245A>G
ENST00000544387.5:c.*245A>G	ENSP00000438424.1:n.*245A>G
ENST00000546226.5:n.2093A>G
NM_000190.3:c.*245A>G	NP_000181.2:n.*245A>G
NM_001024382.1:c.*245A>G	NP_001019553.1:n.*245A>G
NM_001258208.1:c.*245A>G	NP_001245137.1:n.*245A>G
NM_001258209.1:c.*245A>G	NP_001245138.1:n.*245A>G
XM_005271531.1:c.*245A>G	XP_005271588.1:n.*245A>G
XM_005271532.1:c.*245A>G	XP_005271589.1:n.*245A>G
XM_005271533.2:c.*245A>G	XP_005271590.1:n.*245A>G
XM_011542796.1:c.*245A>G	XP_011541098.1:n.*245A>G
NM_000190.4:c.*245A>G MANE Select	NP_000181.2:n.*245A>G
NM_001024382.2:c.*245A>G	NP_001019553.1:n.*245A>G
XM_005271533.3:c.*245A>G	XP_005271590.1:n.*245A>G
XM_017017629.1:c.*245A>G	XP_016873118.1:n.*245A>G
XM_024448460.1:c.*245A>G	XP_024304228.1:n.*245A>G
NM_001258208.2:c.*245A>G	NP_001245137.1:n.*245A>G
NM_001258209.2:c.*245A>G	NP_001245138.1:n.*245A>G