Canonical Allele Identifier: CA2739270355

Gene: AGA

Linked Data

• ClinVar Variation Id: 2864895
• ClinVar RCV Id: RCV003597599

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439563G>A , CM000666.2:g.177439563G>A	GRCh38
NC_000004.11:g.178360717G>A , CM000666.1:g.178360717G>A	GRCh37
NC_000004.10:g.178597711G>A	NCBI36
NG_011845.2:g.7941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+13C>T MANE Select	ENSP00000264595.2:n.394+13C>T
ENST00000264595.6:c.394+13C>T	ENSP00000264595.2:n.394+13C>T
ENST00000502310.5:c.49+13C>T	ENSP00000423798.1:n.49+13C>T
ENST00000506853.5:n.428+13C>T
ENST00000510635.1:c.90+13C>T
ENST00000510955.5:n.316-706C>T
NM_000027.3:c.394+13C>T	NP_000018.2:n.394+13C>T
NM_001171988.1:c.394+13C>T	NP_001165459.1:n.394+13C>T
NR_033655.1:n.522+13C>T
XM_006714123.2:c.394+13C>T	XP_006714186.1:n.394+13C>T
XR_001741155.2:n.488+13C>T
NM_000027.4:c.394+13C>T MANE Select	NP_000018.2:n.394+13C>T
NM_001171988.2:c.394+13C>T	NP_001165459.1:n.394+13C>T
NR_033655.2:n.456+13C>T