Canonical Allele Identifier: CA358783031

Gene: AGA

Linked Data

• gnomAD v4: 4-177437520-C-T
• COSMIC: COSM732995
• MyVariant Identifiers: chr4:g.178358674C>T (hg19) ; chr4:g.177437520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437520C>T , CM000666.2:g.177437520C>T	GRCh38
NC_000004.11:g.178358674C>T , CM000666.1:g.178358674C>T	GRCh37
NC_000004.10:g.178595668C>T	NCBI36
NG_011845.2:g.9984G>A

Transcript Alleles

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