Canonical Allele Identifier: CA1515643332

Gene: AGA

Linked Data

• dbSNP Id: rs1579043897
• gnomAD v4: 4-177438681-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438681A>G , CM000666.2:g.177438681A>G	GRCh38
NC_000004.11:g.178359835A>G , CM000666.1:g.178359835A>G	GRCh37
NC_000004.10:g.178596829A>G	NCBI36
NG_011845.2:g.8823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.507+64T>C MANE Select	ENSP00000264595.2:n.507+64T>C
ENST00000264595.6:c.507+64T>C	ENSP00000264595.2:n.507+64T>C
ENST00000502310.5:c.162+64T>C	ENSP00000423798.1:n.162+64T>C
ENST00000506853.5:n.541+64T>C
ENST00000510635.1:c.203+64T>C
ENST00000510955.5:n.428+64T>C
NM_000027.3:c.507+64T>C	NP_000018.2:n.507+64T>C
NM_001171988.1:c.507+64T>C	NP_001165459.1:n.507+64T>C
NR_033655.1:n.635+64T>C
XM_006714123.2:c.507+64T>C	XP_006714186.1:n.507+64T>C
XR_001741155.2:n.601+64T>C
NM_000027.4:c.507+64T>C MANE Select	NP_000018.2:n.507+64T>C
NM_001171988.2:c.507+64T>C	NP_001165459.1:n.507+64T>C
NR_033655.2:n.569+64T>C