Canonical Allele Identifier: CA115549

Identifiers and link-outs to other resources

ClinVar Variation Id: 2432
ClinVar RCV Id: RCV000002534
dbSNP Id: rs104894605

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007611T>C , CM000679.2:g.44007611T>C GRCh38
NC_000017.10:g.42084979T>C , CM000679.1:g.42084979T>C GRCh37
NC_000017.9:g.39440505T>C NCBI36
NG_008106.1:g.7948T>C
NG_023338.1:g.1859A>G

Transcript Alleles

HGVS Amino-acid change
NM_153006.2:n.1289T>C (NAGS) VV NP_694551.1:p.Leu430Pro
XM_011524438.1:c.1268+117T>C (NAGS) XP_011522740.1:p.=
XM_011524439.1:c.791T>C (NAGS) XP_011522741.1:p.Leu264Pro
XM_011525035.1:c.-463+15961A>G (PYY) XP_011523337.1:p.=
XM_011524439.2:c.791T>C (NAGS) XP_011522741.1:p.Leu264Pro
ENST00000293404.7:c.1289T>C ENSP00000293404.2:p.Leu430Pro
ENST00000589767.1:n.1220T>C ENSP00000465408.1:p.Leu407Pro
ENST00000592915.1:n.1177T>C