Canonical Allele Identifier: CA500616574

Linked Data

MyVariant Identifiers: chr17:g.42085082G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007714G>C , CM000679.2:g.44007714G>C GRCh38
NC_000017.10:g.42085082G>C , CM000679.1:g.42085082G>C GRCh37
NC_000017.9:g.39440608G>C NCBI36
NG_008106.1:g.8051G>C
NG_023338.1:g.1756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1392G>C (NAGS) MANE Select ENSP00000293404.2:p.Leu464=
ENST00000293404.7:c.1392G>C (NAGS) ENSP00000293404.2:p.Leu464=
ENST00000589767.1:c.1323G>C (NAGS) ENSP00000465408.1:p.Leu441=
ENST00000592915.1:n.1280G>C (NAGS)
NM_153006.2:c.1392G>C (NAGS) NP_694551.1:p.Leu464=
XM_011524438.1:c.1268+220G>C (NAGS) XP_011522740.1:n.1268+220G>C
XM_011524439.1:c.894G>C (NAGS) XP_011522741.1:p.Leu298=
XM_011525035.1:c.-463+15858C>G (PYY) XP_011523337.1:n.-463+15858C>G
XM_011524439.2:c.894G>C (NAGS) XP_011522741.1:p.Leu298=
NM_153006.3:c.1392G>C (NAGS) MANE Select NP_694551.1:p.Leu464=