Canonical Allele Identifier: CA500241072

Linked Data

MyVariant Identifiers: chr17:g.42083923C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006555C>A , CM000679.2:g.44006555C>A GRCh38
NC_000017.10:g.42083923C>A , CM000679.1:g.42083923C>A GRCh37
NC_000017.9:g.39439449C>A NCBI36
NG_008106.1:g.6892C>A
NG_023338.1:g.2915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.942C>A (NAGS) MANE Select ENSP00000293404.2:p.Ala314=
ENST00000293404.7:c.942C>A (NAGS) ENSP00000293404.2:p.Ala314=
ENST00000589767.1:c.849C>A (NAGS) ENSP00000465408.1:p.Ala283=
ENST00000592915.1:n.217C>A (NAGS)
NM_153006.2:c.942C>A (NAGS) NP_694551.1:p.Ala314=
XM_011524438.1:c.942C>A (NAGS) XP_011522740.1:p.Ala314=
XM_011524439.1:c.444C>A (NAGS) XP_011522741.1:p.Ala148=
XM_011525035.1:c.-463+17017G>T (PYY) XP_011523337.1:n.-463+17017G>T
XM_011524439.2:c.444C>A (NAGS) XP_011522741.1:p.Ala148=
NM_153006.3:c.942C>A (NAGS) MANE Select NP_694551.1:p.Ala314=