Canonical Allele Identifier: CA358783388

Gene: AGA

Linked Data

• dbSNP Id: rs1736902642
• MyVariant Identifiers: chr4:g.178359981A>G (hg19) ; chr4:g.177438827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438827A>G , CM000666.2:g.177438827A>G	GRCh38
NC_000004.11:g.178359981A>G , CM000666.1:g.178359981A>G	GRCh37
NC_000004.10:g.178596975A>G	NCBI36
NG_011845.2:g.8677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.425T>C MANE Select	ENSP00000264595.2:p.Ile142Thr
ENST00000264595.6:c.425T>C	ENSP00000264595.2:p.Ile142Thr
ENST00000502310.5:c.80T>C	ENSP00000423798.1:p.Ile27Thr
ENST00000506853.5:n.459T>C
ENST00000510635.1:c.121T>C
ENST00000510955.5:n.346T>C
NM_000027.3:c.425T>C	NP_000018.2:p.Ile142Thr
NM_001171988.1:c.425T>C	NP_001165459.1:p.Ile142Thr
NR_033655.1:n.553T>C
XM_006714123.2:c.425T>C	XP_006714186.1:p.Ile142Thr
XR_001741155.2:n.519T>C
NM_000027.4:c.425T>C MANE Select	NP_000018.2:p.Ile142Thr
NM_001171988.2:c.425T>C	NP_001165459.1:p.Ile142Thr
NR_033655.2:n.487T>C