Canonical Allele Identifier: CA500241099

Linked Data

MyVariant Identifiers: chr17:g.42083965A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006597A>G , CM000679.2:g.44006597A>G GRCh38
NC_000017.10:g.42083965A>G , CM000679.1:g.42083965A>G GRCh37
NC_000017.9:g.39439491A>G NCBI36
NG_008106.1:g.6934A>G
NG_023338.1:g.2873T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.984A>G (NAGS) MANE Select ENSP00000293404.2:p.Lys328=
ENST00000293404.7:c.984A>G (NAGS) ENSP00000293404.2:p.Lys328=
ENST00000589767.1:c.891A>G (NAGS) ENSP00000465408.1:p.Lys297=
ENST00000592915.1:n.259A>G (NAGS)
NM_153006.2:c.984A>G (NAGS) NP_694551.1:p.Lys328=
XM_011524438.1:c.984A>G (NAGS) XP_011522740.1:p.Lys328=
XM_011524439.1:c.486A>G (NAGS) XP_011522741.1:p.Lys162=
XM_011525035.1:c.-463+16975T>C (PYY) XP_011523337.1:n.-463+16975T>C
XM_011524439.2:c.486A>G (NAGS) XP_011522741.1:p.Lys162=
NM_153006.3:c.984A>G (NAGS) MANE Select NP_694551.1:p.Lys328=