Canonical Allele Identifier: CA500616186

Linked Data

MyVariant Identifiers: chr17:g.42083587G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006219G>T , CM000679.2:g.44006219G>T GRCh38
NC_000017.10:g.42083587G>T , CM000679.1:g.42083587G>T GRCh37
NC_000017.9:g.39439113G>T NCBI36
NG_008106.1:g.6556G>T
NG_023338.1:g.3251C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.897G>T (NAGS) MANE Select ENSP00000293404.2:p.Leu299=
ENST00000293404.7:c.897G>T (NAGS) ENSP00000293404.2:p.Leu299=
ENST00000589767.1:c.804G>T (NAGS) ENSP00000465408.1:p.Leu268=
ENST00000592915.1:n.172G>T (NAGS)
NM_153006.2:c.897G>T (NAGS) NP_694551.1:p.Leu299=
XM_011524438.1:c.897G>T (NAGS) XP_011522740.1:p.Leu299=
XM_011524439.1:c.399G>T (NAGS) XP_011522741.1:p.Leu133=
XM_011525035.1:c.-463+17353C>A (PYY) XP_011523337.1:n.-463+17353C>A
XM_011524439.2:c.399G>T (NAGS) XP_011522741.1:p.Leu133=
NM_153006.3:c.897G>T (NAGS) MANE Select NP_694551.1:p.Leu299=