Canonical Allele Identifier: CA2580071737

Gene: AGA

Linked Data

• ClinVar Variation Id: 2007442
• ClinVar RCV Id: RCV002842320

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439567A>G , CM000666.2:g.177439567A>G	GRCh38
NC_000004.11:g.178360721A>G , CM000666.1:g.178360721A>G	GRCh37
NC_000004.10:g.178597715A>G	NCBI36
NG_011845.2:g.7937T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.394+9T>C MANE Select	ENSP00000264595.2:n.394+9T>C
ENST00000264595.6:c.394+9T>C	ENSP00000264595.2:n.394+9T>C
ENST00000502310.5:c.49+9T>C	ENSP00000423798.1:n.49+9T>C
ENST00000506853.5:n.428+9T>C
ENST00000510635.1:c.90+9T>C
ENST00000510955.5:n.315+706T>C
NM_000027.3:c.394+9T>C	NP_000018.2:n.394+9T>C
NM_001171988.1:c.394+9T>C	NP_001165459.1:n.394+9T>C
NR_033655.1:n.522+9T>C
XM_006714123.2:c.394+9T>C	XP_006714186.1:n.394+9T>C
XR_001741155.2:n.488+9T>C
NM_000027.4:c.394+9T>C MANE Select	NP_000018.2:n.394+9T>C
NM_001171988.2:c.394+9T>C	NP_001165459.1:n.394+9T>C
NR_033655.2:n.456+9T>C