Canonical Allele Identifier: CA1515641703

Gene: AGA

Linked Data

• dbSNP Id: rs1736856370
• gnomAD v4: 4-177437352-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437352G>A , CM000666.2:g.177437352G>A	GRCh38
NC_000004.11:g.178358506G>A , CM000666.1:g.178358506G>A	GRCh37
NC_000004.10:g.178595500G>A	NCBI36
NG_011845.2:g.10152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.622+53C>T MANE Select	ENSP00000264595.2:n.622+53C>T
ENST00000264595.6:c.622+53C>T	ENSP00000264595.2:n.622+53C>T
ENST00000502310.5:c.277+53C>T	ENSP00000423798.1:n.277+53C>T
ENST00000506853.5:n.656+53C>T
ENST00000510635.1:c.318+53C>T
ENST00000510955.5:n.596C>T
NM_000027.3:c.622+53C>T	NP_000018.2:n.622+53C>T
NM_001171988.1:c.622+53C>T	NP_001165459.1:n.622+53C>T
NR_033655.1:n.750+53C>T
XM_006714123.2:c.622+53C>T	XP_006714186.1:n.622+53C>T
XR_001741155.2:n.716+53C>T
NM_000027.4:c.622+53C>T MANE Select	NP_000018.2:n.622+53C>T
NM_001171988.2:c.622+53C>T	NP_001165459.1:n.622+53C>T
NR_033655.2:n.684+53C>T