Canonical Allele Identifier: CA649512524

Gene: AGA

Linked Data

• gnomAD v4: 4-177437544-T-C
• COSMIC: COSN18802407

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437544T>C , CM000666.2:g.177437544T>C	GRCh38
NC_000004.11:g.178358698T>C , CM000666.1:g.178358698T>C	GRCh37
NC_000004.10:g.178595692T>C	NCBI36
NG_011845.2:g.9960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-25A>G MANE Select	ENSP00000264595.2:n.508-25A>G
ENST00000264595.6:c.508-25A>G	ENSP00000264595.2:n.508-25A>G
ENST00000502310.5:c.163-25A>G	ENSP00000423798.1:n.163-25A>G
ENST00000506853.5:n.542-25A>G
ENST00000510635.1:c.204-25A>G
ENST00000510955.5:n.429-25A>G
NM_000027.3:c.508-25A>G	NP_000018.2:n.508-25A>G
NM_001171988.1:c.508-25A>G	NP_001165459.1:n.508-25A>G
NR_033655.1:n.636-25A>G
XM_006714123.2:c.508-25A>G	XP_006714186.1:n.508-25A>G
XR_001741155.2:n.602-25A>G
NM_000027.4:c.508-25A>G MANE Select	NP_000018.2:n.508-25A>G
NM_001171988.2:c.508-25A>G	NP_001165459.1:n.508-25A>G
NR_033655.2:n.570-25A>G