Canonical Allele Identifier: CA500616278

Linked Data

dbSNP Id: rs2143990310
MyVariant Identifiers: chr17:g.42084833G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007465G>C , CM000679.2:g.44007465G>C GRCh38
NC_000017.10:g.42084833G>C , CM000679.1:g.42084833G>C GRCh37
NC_000017.9:g.39440359G>C NCBI36
NG_008106.1:g.7802G>C
NG_023338.1:g.2005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1239G>C (NAGS) MANE Select ENSP00000293404.2:p.Pro413=
ENST00000293404.7:c.1239G>C (NAGS) ENSP00000293404.2:p.Pro413=
ENST00000589767.1:c.1146G>C (NAGS) ENSP00000465408.1:p.Pro382=
ENST00000592915.1:n.1127G>C (NAGS)
NM_153006.2:c.1239G>C (NAGS) NP_694551.1:p.Pro413=
XM_011524438.1:c.1239G>C (NAGS) XP_011522740.1:p.Pro413=
XM_011524439.1:c.741G>C (NAGS) XP_011522741.1:p.Pro247=
XM_011525035.1:c.-463+16107C>G (PYY) XP_011523337.1:n.-463+16107C>G
XM_011524439.2:c.741G>C (NAGS) XP_011522741.1:p.Pro247=
NM_153006.3:c.1239G>C (NAGS) MANE Select NP_694551.1:p.Pro413=