Canonical Allele Identifier: CA2672747118

Gene: AGA

Linked Data

• gnomAD v4: 4-177437347-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437347C>T , CM000666.2:g.177437347C>T	GRCh38
NC_000004.11:g.178358501C>T , CM000666.1:g.178358501C>T	GRCh37
NC_000004.10:g.178595495C>T	NCBI36
NG_011845.2:g.10157G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.622+58G>A MANE Select	ENSP00000264595.2:n.622+58G>A
ENST00000264595.6:c.622+58G>A	ENSP00000264595.2:n.622+58G>A
ENST00000502310.5:c.277+58G>A	ENSP00000423798.1:n.277+58G>A
ENST00000506853.5:n.656+58G>A
ENST00000510635.1:c.318+58G>A
ENST00000510955.5:n.601G>A
NM_000027.3:c.622+58G>A	NP_000018.2:n.622+58G>A
NM_001171988.1:c.622+58G>A	NP_001165459.1:n.622+58G>A
NR_033655.1:n.750+58G>A
XM_006714123.2:c.622+58G>A	XP_006714186.1:n.622+58G>A
XR_001741155.2:n.716+58G>A
NM_000027.4:c.622+58G>A MANE Select	NP_000018.2:n.622+58G>A
NM_001171988.2:c.622+58G>A	NP_001165459.1:n.622+58G>A
NR_033655.2:n.684+58G>A