Canonical Allele Identifier: CA399727093

Linked Data

dbSNP Id: rs1597866260

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007446A>G , CM000679.2:g.44007446A>G GRCh38
NC_000017.10:g.42084814A>G , CM000679.1:g.42084814A>G GRCh37
NC_000017.9:g.39440340A>G NCBI36
NG_008106.1:g.7783A>G
NG_023338.1:g.2024T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1220A>G (NAGS) MANE Select ENSP00000293404.2:p.Tyr407Cys
ENST00000293404.7:c.1220A>G (NAGS) ENSP00000293404.2:p.Tyr407Cys
ENST00000589767.1:c.1127A>G (NAGS) ENSP00000465408.1:p.Tyr376Cys
ENST00000592915.1:n.1108A>G (NAGS)
NM_153006.2:c.1220A>G (NAGS) NP_694551.1:p.Tyr407Cys
XM_011524438.1:c.1220A>G (NAGS) XP_011522740.1:p.Tyr407Cys
XM_011524439.1:c.722A>G (NAGS) XP_011522741.1:p.Tyr241Cys
XM_011525035.1:c.-463+16126T>C (PYY) XP_011523337.1:n.-463+16126T>C
XM_011524439.2:c.722A>G (NAGS) XP_011522741.1:p.Tyr241Cys
NM_153006.3:c.1220A>G (NAGS) MANE Select NP_694551.1:p.Tyr407Cys