Canonical Allele Identifier: CA500241100

Linked Data

MyVariant Identifiers: chr17:g.42083968A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006600A>G , CM000679.2:g.44006600A>G GRCh38
NC_000017.10:g.42083968A>G , CM000679.1:g.42083968A>G GRCh37
NC_000017.9:g.39439494A>G NCBI36
NG_008106.1:g.6937A>G
NG_023338.1:g.2870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.987A>G (NAGS) MANE Select ENSP00000293404.2:p.Glu329=
ENST00000293404.7:c.987A>G (NAGS) ENSP00000293404.2:p.Glu329=
ENST00000589767.1:c.894A>G (NAGS) ENSP00000465408.1:p.Glu298=
ENST00000592915.1:n.262A>G (NAGS)
NM_153006.2:c.987A>G (NAGS) NP_694551.1:p.Glu329=
XM_011524438.1:c.987A>G (NAGS) XP_011522740.1:p.Glu329=
XM_011524439.1:c.489A>G (NAGS) XP_011522741.1:p.Glu163=
XM_011525035.1:c.-463+16972T>C (PYY) XP_011523337.1:n.-463+16972T>C
XM_011524439.2:c.489A>G (NAGS) XP_011522741.1:p.Glu163=
NM_153006.3:c.987A>G (NAGS) MANE Select NP_694551.1:p.Glu329=