Canonical Allele Identifier: CA358782285

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355605T>G (hg19) ; chr4:g.177434451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434451T>G , CM000666.2:g.177434451T>G	GRCh38
NC_000004.11:g.178355605T>G , CM000666.1:g.178355605T>G	GRCh37
NC_000004.10:g.178592599T>G	NCBI36
NG_011845.2:g.13053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.737A>C MANE Select	ENSP00000264595.2:p.Tyr246Ser
ENST00000264595.6:c.737A>C	ENSP00000264595.2:p.Tyr246Ser
ENST00000502310.5:c.308A>C	ENSP00000423798.1:p.Tyr103Ser
ENST00000506853.5:n.695A>C
ENST00000510635.1:c.403A>C
NM_000027.3:c.737A>C	NP_000018.2:p.Tyr246Ser
NM_001171988.1:c.707A>C	NP_001165459.1:p.Tyr236Ser
NR_033655.1:n.789A>C
XM_006714123.2:c.*31A>C	XP_006714186.1:n.*31A>C
XR_001741155.2:n.809A>C
NM_000027.4:c.737A>C MANE Select	NP_000018.2:p.Tyr246Ser
NM_001171988.2:c.707A>C	NP_001165459.1:p.Tyr236Ser
NR_033655.2:n.723A>C