Canonical Allele Identifier: CA399725648

Linked Data

dbSNP Id: rs1326298005

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006151G>C , CM000679.2:g.44006151G>C GRCh38
NC_000017.10:g.42083519G>C , CM000679.1:g.42083519G>C GRCh37
NC_000017.9:g.39439045G>C NCBI36
NG_008106.1:g.6488G>C
NG_023338.1:g.3319C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.829G>C (NAGS) MANE Select ENSP00000293404.2:p.Val277Leu
ENST00000293404.7:c.829G>C (NAGS) ENSP00000293404.2:p.Val277Leu
ENST00000589767.1:c.736G>C (NAGS) ENSP00000465408.1:p.Val246Leu
ENST00000592915.1:n.104G>C (NAGS)
NM_153006.2:c.829G>C (NAGS) NP_694551.1:p.Val277Leu
XM_011524438.1:c.829G>C (NAGS) XP_011522740.1:p.Val277Leu
XM_011524439.1:c.331G>C (NAGS) XP_011522741.1:p.Val111Leu
XM_011525035.1:c.-463+17421C>G (PYY) XP_011523337.1:n.-463+17421C>G
XM_011524439.2:c.331G>C (NAGS) XP_011522741.1:p.Val111Leu
NM_153006.3:c.829G>C (NAGS) MANE Select NP_694551.1:p.Val277Leu