Canonical Allele Identifier: CA1071329928

Gene: AGA

Linked Data

• dbSNP Id: rs1245732029
• gnomAD v3: 4-177437643-G-T
• gnomAD v4: 4-177437643-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437643G>T , CM000666.2:g.177437643G>T	GRCh38
NC_000004.11:g.178358797G>T , CM000666.1:g.178358797G>T	GRCh37
NC_000004.10:g.178595791G>T	NCBI36
NG_011845.2:g.9861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-124C>A MANE Select	ENSP00000264595.2:n.508-124C>A
ENST00000264595.6:c.508-124C>A	ENSP00000264595.2:n.508-124C>A
ENST00000502310.5:c.163-124C>A	ENSP00000423798.1:n.163-124C>A
ENST00000506853.5:n.542-124C>A
ENST00000510635.1:c.204-124C>A
ENST00000510955.5:n.429-124C>A
NM_000027.3:c.508-124C>A	NP_000018.2:n.508-124C>A
NM_001171988.1:c.508-124C>A	NP_001165459.1:n.508-124C>A
NR_033655.1:n.636-124C>A
XM_006714123.2:c.508-124C>A	XP_006714186.1:n.508-124C>A
XR_001741155.2:n.602-124C>A
NM_000027.4:c.508-124C>A MANE Select	NP_000018.2:n.508-124C>A
NM_001171988.2:c.508-124C>A	NP_001165459.1:n.508-124C>A
NR_033655.2:n.570-124C>A