Canonical Allele Identifier: CA2672747263

Gene: AGA

Linked Data

• gnomAD v4: 4-177437636-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437636A>C , CM000666.2:g.177437636A>C	GRCh38
NC_000004.11:g.178358790A>C , CM000666.1:g.178358790A>C	GRCh37
NC_000004.10:g.178595784A>C	NCBI36
NG_011845.2:g.9868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-117T>G MANE Select	ENSP00000264595.2:n.508-117T>G
ENST00000264595.6:c.508-117T>G	ENSP00000264595.2:n.508-117T>G
ENST00000502310.5:c.163-117T>G	ENSP00000423798.1:n.163-117T>G
ENST00000506853.5:n.542-117T>G
ENST00000510635.1:c.204-117T>G
ENST00000510955.5:n.429-117T>G
NM_000027.3:c.508-117T>G	NP_000018.2:n.508-117T>G
NM_001171988.1:c.508-117T>G	NP_001165459.1:n.508-117T>G
NR_033655.1:n.636-117T>G
XM_006714123.2:c.508-117T>G	XP_006714186.1:n.508-117T>G
XR_001741155.2:n.602-117T>G
NM_000027.4:c.508-117T>G MANE Select	NP_000018.2:n.508-117T>G
NM_001171988.2:c.508-117T>G	NP_001165459.1:n.508-117T>G
NR_033655.2:n.570-117T>G