Canonical Allele Identifier: CA358784616

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361553G>T (hg19) ; chr4:g.177440399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440399G>T , CM000666.2:g.177440399G>T	GRCh38
NC_000004.11:g.178361553G>T , CM000666.1:g.178361553G>T	GRCh37
NC_000004.10:g.178598547G>T	NCBI36
NG_011845.2:g.7105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.155C>A MANE Select	ENSP00000264595.2:p.Ser52Tyr
ENST00000264595.6:c.155C>A	ENSP00000264595.2:p.Ser52Tyr
ENST00000506853.5:n.189C>A
ENST00000510955.5:n.189C>A
ENST00000511231.1:n.189C>A
NM_000027.3:c.155C>A	NP_000018.2:p.Ser52Tyr
NM_001171988.1:c.155C>A	NP_001165459.1:p.Ser52Tyr
NR_033655.1:n.283C>A
XM_006714123.2:c.155C>A	XP_006714186.1:p.Ser52Tyr
XR_001741155.2:n.249C>A
NM_000027.4:c.155C>A MANE Select	NP_000018.2:p.Ser52Tyr
NM_001171988.2:c.155C>A	NP_001165459.1:p.Ser52Tyr
NR_033655.2:n.217C>A