Canonical Allele Identifier: CA358782647

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358589T>C (hg19) ; chr4:g.177437435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437435T>C , CM000666.2:g.177437435T>C	GRCh38
NC_000004.11:g.178358589T>C , CM000666.1:g.178358589T>C	GRCh37
NC_000004.10:g.178595583T>C	NCBI36
NG_011845.2:g.10069A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.592A>G MANE Select	ENSP00000264595.2:p.Thr198Ala
ENST00000264595.6:c.592A>G	ENSP00000264595.2:p.Thr198Ala
ENST00000502310.5:c.247A>G	ENSP00000423798.1:p.Thr83Ala
ENST00000506853.5:n.626A>G
ENST00000510635.1:c.288A>G
ENST00000510955.5:n.513A>G
NM_000027.3:c.592A>G	NP_000018.2:p.Thr198Ala
NM_001171988.1:c.592A>G	NP_001165459.1:p.Thr198Ala
NR_033655.1:n.720A>G
XM_006714123.2:c.592A>G	XP_006714186.1:p.Thr198Ala
XR_001741155.2:n.686A>G
NM_000027.4:c.592A>G MANE Select	NP_000018.2:p.Thr198Ala
NM_001171988.2:c.592A>G	NP_001165459.1:p.Thr198Ala
NR_033655.2:n.654A>G