Canonical Allele Identifier: CA399726595

Linked Data

ClinVar Variation Id: 931446
ClinVar RCV Id: RCV001197995
dbSNP Id: rs2049097522

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006711T>G , CM000679.2:g.44006711T>G GRCh38
NC_000017.10:g.42084079T>G , CM000679.1:g.42084079T>G GRCh37
NC_000017.9:g.39439605T>G NCBI36
NG_008106.1:g.7048T>G
NG_023338.1:g.2759A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+2T>G (NAGS) MANE Select ENSP00000293404.2:n.1096+2T>G
ENST00000293404.7:c.1096+2T>G (NAGS) ENSP00000293404.2:n.1096+2T>G
ENST00000589767.1:c.1003+2T>G (NAGS) ENSP00000465408.1:n.1003+2T>G
ENST00000592915.1:n.373T>G (NAGS)
NM_153006.2:c.1096+2T>G (NAGS) NP_694551.1:n.1096+2T>G
XM_011524438.1:c.1096+2T>G (NAGS) XP_011522740.1:n.1096+2T>G
XM_011524439.1:c.598+2T>G (NAGS) XP_011522741.1:n.598+2T>G
XM_011525035.1:c.-463+16861A>C (PYY) XP_011523337.1:n.-463+16861A>C
XM_011524439.2:c.598+2T>G (NAGS) XP_011522741.1:n.598+2T>G
NM_153006.3:c.1096+2T>G (NAGS) MANE Select NP_694551.1:n.1096+2T>G