Canonical Allele Identifier: CA358782925

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358649A>G (hg19) ; chr4:g.177437495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437495A>G , CM000666.2:g.177437495A>G	GRCh38
NC_000004.11:g.178358649A>G , CM000666.1:g.178358649A>G	GRCh37
NC_000004.10:g.178595643A>G	NCBI36
NG_011845.2:g.10009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.532T>C MANE Select	ENSP00000264595.2:p.Tyr178His
ENST00000264595.6:c.532T>C	ENSP00000264595.2:p.Tyr178His
ENST00000502310.5:c.187T>C	ENSP00000423798.1:p.Tyr63His
ENST00000506853.5:n.566T>C
ENST00000510635.1:c.228T>C
ENST00000510955.5:n.453T>C
NM_000027.3:c.532T>C	NP_000018.2:p.Tyr178His
NM_001171988.1:c.532T>C	NP_001165459.1:p.Tyr178His
NR_033655.1:n.660T>C
XM_006714123.2:c.532T>C	XP_006714186.1:p.Tyr178His
XR_001741155.2:n.626T>C
NM_000027.4:c.532T>C MANE Select	NP_000018.2:p.Tyr178His
NM_001171988.2:c.532T>C	NP_001165459.1:p.Tyr178His
NR_033655.2:n.594T>C