Canonical Allele Identifier: CA358784990

Gene: AGA

Linked Data

• dbSNP Id: rs1323425438
• gnomAD v3: 4-177442254-T-C
• gnomAD v4: 4-177442254-T-C
• MyVariant Identifiers: chr4:g.178363408T>C (hg19) ; chr4:g.177442254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442254T>C , CM000666.2:g.177442254T>C	GRCh38
NC_000004.11:g.178363408T>C , CM000666.1:g.178363408T>C	GRCh37
NC_000004.10:g.178600402T>C	NCBI36
NG_011845.2:g.5250A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.122A>G MANE Select	ENSP00000264595.2:p.Glu41Gly
ENST00000264595.6:c.122A>G	ENSP00000264595.2:p.Glu41Gly
ENST00000506853.5:n.156A>G
ENST00000510955.5:n.156A>G
ENST00000511231.1:n.156A>G
NM_000027.3:c.122A>G	NP_000018.2:p.Glu41Gly
NM_001171988.1:c.122A>G	NP_001165459.1:p.Glu41Gly
NR_033655.1:n.250A>G
XM_006714123.2:c.122A>G	XP_006714186.1:p.Glu41Gly
XR_001741155.2:n.216A>G
NM_000027.4:c.122A>G MANE Select	NP_000018.2:p.Glu41Gly
NM_001171988.2:c.122A>G	NP_001165459.1:p.Glu41Gly
NR_033655.2:n.184A>G