Canonical Allele Identifier: CA500241274

Linked Data

MyVariant Identifiers: chr17:g.42084064C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006696C>G , CM000679.2:g.44006696C>G GRCh38
NC_000017.10:g.42084064C>G , CM000679.1:g.42084064C>G GRCh37
NC_000017.9:g.39439590C>G NCBI36
NG_008106.1:g.7033C>G
NG_023338.1:g.2774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1083C>G (NAGS) MANE Select ENSP00000293404.2:p.Leu361=
ENST00000293404.7:c.1083C>G (NAGS) ENSP00000293404.2:p.Leu361=
ENST00000589767.1:c.990C>G (NAGS) ENSP00000465408.1:p.Leu330=
ENST00000592915.1:n.358C>G (NAGS)
NM_153006.2:c.1083C>G (NAGS) NP_694551.1:p.Leu361=
XM_011524438.1:c.1083C>G (NAGS) XP_011522740.1:p.Leu361=
XM_011524439.1:c.585C>G (NAGS) XP_011522741.1:p.Leu195=
XM_011525035.1:c.-463+16876G>C (PYY) XP_011523337.1:n.-463+16876G>C
XM_011524439.2:c.585C>G (NAGS) XP_011522741.1:p.Leu195=
NM_153006.3:c.1083C>G (NAGS) MANE Select NP_694551.1:p.Leu361=