Canonical Allele Identifier: CA500241261

Linked Data

dbSNP Id: rs2049097203
MyVariant Identifiers: chr17:g.42084049G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006681G>T , CM000679.2:g.44006681G>T GRCh38
NC_000017.10:g.42084049G>T , CM000679.1:g.42084049G>T GRCh37
NC_000017.9:g.39439575G>T NCBI36
NG_008106.1:g.7018G>T
NG_023338.1:g.2789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1068G>T (NAGS) MANE Select ENSP00000293404.2:p.Thr356=
ENST00000293404.7:c.1068G>T (NAGS) ENSP00000293404.2:p.Thr356=
ENST00000589767.1:c.975G>T (NAGS) ENSP00000465408.1:p.Thr325=
ENST00000592915.1:n.343G>T (NAGS)
NM_153006.2:c.1068G>T (NAGS) NP_694551.1:p.Thr356=
XM_011524438.1:c.1068G>T (NAGS) XP_011522740.1:p.Thr356=
XM_011524439.1:c.570G>T (NAGS) XP_011522741.1:p.Thr190=
XM_011525035.1:c.-463+16891C>A (PYY) XP_011523337.1:n.-463+16891C>A
XM_011524439.2:c.570G>T (NAGS) XP_011522741.1:p.Thr190=
NM_153006.3:c.1068G>T (NAGS) MANE Select NP_694551.1:p.Thr356=