Canonical Allele Identifier: CA358784352

Gene: AGA

Linked Data

• dbSNP Id: rs1433635506
• gnomAD v2: 4-178361499-T-C
• gnomAD v4: 4-177440345-T-C
• MyVariant Identifiers: chr4:g.178361499T>C (hg19) ; chr4:g.177440345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440345T>C , CM000666.2:g.177440345T>C	GRCh38
NC_000004.11:g.178361499T>C , CM000666.1:g.178361499T>C	GRCh37
NC_000004.10:g.178598493T>C	NCBI36
NG_011845.2:g.7159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.209A>G MANE Select	ENSP00000264595.2:p.Asp70Gly
ENST00000264595.6:c.209A>G	ENSP00000264595.2:p.Asp70Gly
ENST00000506853.5:n.243A>G
ENST00000510955.5:n.243A>G
ENST00000511231.1:n.243A>G
NM_000027.3:c.209A>G	NP_000018.2:p.Asp70Gly
NM_001171988.1:c.209A>G	NP_001165459.1:p.Asp70Gly
NR_033655.1:n.337A>G
XM_006714123.2:c.209A>G	XP_006714186.1:p.Asp70Gly
XR_001741155.2:n.303A>G
NM_000027.4:c.209A>G MANE Select	NP_000018.2:p.Asp70Gly
NM_001171988.2:c.209A>G	NP_001165459.1:p.Asp70Gly
NR_033655.2:n.271A>G