Canonical Allele Identifier: CA500616064

Linked Data

dbSNP Id: rs2049086692
MyVariant Identifiers: chr17:g.42083482G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006114G>C , CM000679.2:g.44006114G>C GRCh38
NC_000017.10:g.42083482G>C , CM000679.1:g.42083482G>C GRCh37
NC_000017.9:g.39439008G>C NCBI36
NG_008106.1:g.6451G>C
NG_023338.1:g.3356C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.792G>C (NAGS) MANE Select ENSP00000293404.2:p.Thr264=
ENST00000293404.7:c.792G>C (NAGS) ENSP00000293404.2:p.Thr264=
ENST00000589767.1:c.699G>C (NAGS) ENSP00000465408.1:p.Thr233=
ENST00000592915.1:n.67G>C (NAGS)
NM_153006.2:c.792G>C (NAGS) NP_694551.1:p.Thr264=
XM_011524438.1:c.792G>C (NAGS) XP_011522740.1:p.Thr264=
XM_011524439.1:c.294G>C (NAGS) XP_011522741.1:p.Thr98=
XM_011525035.1:c.-463+17458C>G (PYY) XP_011523337.1:n.-463+17458C>G
XM_011524439.2:c.294G>C (NAGS) XP_011522741.1:p.Thr98=
NM_153006.3:c.792G>C (NAGS) MANE Select NP_694551.1:p.Thr264=