Canonical Allele Identifier: CA2697546990

Gene: AGA

Linked Data

• ClinVar Variation Id: 2755283
• ClinVar RCV Id: RCV003495822

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437535A>T , CM000666.2:g.177437535A>T	GRCh38
NC_000004.11:g.178358689A>T , CM000666.1:g.178358689A>T	GRCh37
NC_000004.10:g.178595683A>T	NCBI36
NG_011845.2:g.9969T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-16T>A MANE Select	ENSP00000264595.2:n.508-16T>A
ENST00000264595.6:c.508-16T>A	ENSP00000264595.2:n.508-16T>A
ENST00000502310.5:c.163-16T>A	ENSP00000423798.1:n.163-16T>A
ENST00000506853.5:n.542-16T>A
ENST00000510635.1:c.204-16T>A
ENST00000510955.5:n.429-16T>A
NM_000027.3:c.508-16T>A	NP_000018.2:n.508-16T>A
NM_001171988.1:c.508-16T>A	NP_001165459.1:n.508-16T>A
NR_033655.1:n.636-16T>A
XM_006714123.2:c.508-16T>A	XP_006714186.1:n.508-16T>A
XR_001741155.2:n.602-16T>A
NM_000027.4:c.508-16T>A MANE Select	NP_000018.2:n.508-16T>A
NM_001171988.2:c.508-16T>A	NP_001165459.1:n.508-16T>A
NR_033655.2:n.570-16T>A