Canonical Allele Identifier: CA500616370

Linked Data

MyVariant Identifiers: chr17:g.42084992C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007624C>G , CM000679.2:g.44007624C>G GRCh38
NC_000017.10:g.42084992C>G , CM000679.1:g.42084992C>G GRCh37
NC_000017.9:g.39440518C>G NCBI36
NG_008106.1:g.7961C>G
NG_023338.1:g.1846G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1302C>G (NAGS) MANE Select ENSP00000293404.2:p.Pro434=
ENST00000293404.7:c.1302C>G (NAGS) ENSP00000293404.2:p.Pro434=
ENST00000589767.1:c.1233C>G (NAGS) ENSP00000465408.1:p.Pro411=
ENST00000592915.1:n.1190C>G (NAGS)
NM_153006.2:c.1302C>G (NAGS) NP_694551.1:p.Pro434=
XM_011524438.1:c.1268+130C>G (NAGS) XP_011522740.1:n.1268+130C>G
XM_011524439.1:c.804C>G (NAGS) XP_011522741.1:p.Pro268=
XM_011525035.1:c.-463+15948G>C (PYY) XP_011523337.1:n.-463+15948G>C
XM_011524439.2:c.804C>G (NAGS) XP_011522741.1:p.Pro268=
NM_153006.3:c.1302C>G (NAGS) MANE Select NP_694551.1:p.Pro434=