Canonical Allele Identifier: CA500616093

Linked Data

MyVariant Identifiers: chr17:g.42083500G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006132G>C , CM000679.2:g.44006132G>C GRCh38
NC_000017.10:g.42083500G>C , CM000679.1:g.42083500G>C GRCh37
NC_000017.9:g.39439026G>C NCBI36
NG_008106.1:g.6469G>C
NG_023338.1:g.3338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.810G>C (NAGS) MANE Select ENSP00000293404.2:p.Val270=
ENST00000293404.7:c.810G>C (NAGS) ENSP00000293404.2:p.Val270=
ENST00000589767.1:c.717G>C (NAGS) ENSP00000465408.1:p.Val239=
ENST00000592915.1:n.85G>C (NAGS)
NM_153006.2:c.810G>C (NAGS) NP_694551.1:p.Val270=
XM_011524438.1:c.810G>C (NAGS) XP_011522740.1:p.Val270=
XM_011524439.1:c.312G>C (NAGS) XP_011522741.1:p.Val104=
XM_011525035.1:c.-463+17440C>G (PYY) XP_011523337.1:n.-463+17440C>G
XM_011524439.2:c.312G>C (NAGS) XP_011522741.1:p.Val104=
NM_153006.3:c.810G>C (NAGS) MANE Select NP_694551.1:p.Val270=