Canonical Allele Identifier: CA2573154098

Linked Data

ClinVar Variation Id: 1587986
ClinVar RCV Id: RCV002095770
dbSNP Id: rs2143985981

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006245C>G , CM000679.2:g.44006245C>G GRCh38
NC_000017.10:g.42083613C>G , CM000679.1:g.42083613C>G GRCh37
NC_000017.9:g.39439139C>G NCBI36
NG_008106.1:g.6582C>G
NG_023338.1:g.3225G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+8C>G (NAGS) MANE Select ENSP00000293404.2:n.915+8C>G
ENST00000293404.7:c.915+8C>G (NAGS) ENSP00000293404.2:n.915+8C>G
ENST00000589767.1:c.822+8C>G (NAGS) ENSP00000465408.1:n.822+8C>G
ENST00000592915.1:n.190+8C>G (NAGS)
NM_153006.2:c.915+8C>G (NAGS) NP_694551.1:n.915+8C>G
XM_011524438.1:c.915+8C>G (NAGS) XP_011522740.1:n.915+8C>G
XM_011524439.1:c.417+8C>G (NAGS) XP_011522741.1:n.417+8C>G
XM_011525035.1:c.-463+17327G>C (PYY) XP_011523337.1:n.-463+17327G>C
XM_011524439.2:c.417+8C>G (NAGS) XP_011522741.1:n.417+8C>G
NM_153006.3:c.915+8C>G (NAGS) MANE Select NP_694551.1:n.915+8C>G