Canonical Allele Identifier: CA2638146002

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005975T>C , CM000679.2:g.44005975T>C GRCh38
NC_000017.10:g.42083343T>C , CM000679.1:g.42083343T>C GRCh37
NC_000017.9:g.39438869T>C NCBI36
NG_008106.1:g.6312T>C
NG_023338.1:g.3495A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.702-49T>C (NAGS) MANE Select ENSP00000293404.2:n.702-49T>C
ENST00000293404.7:c.702-49T>C (NAGS) ENSP00000293404.2:n.702-49T>C
ENST00000589767.1:c.609-49T>C (NAGS) ENSP00000465408.1:n.609-49T>C
NM_153006.2:c.702-49T>C (NAGS) NP_694551.1:n.702-49T>C
XM_011524438.1:c.702-49T>C (NAGS) XP_011522740.1:n.702-49T>C
XM_011524439.1:c.204-49T>C (NAGS) XP_011522741.1:n.204-49T>C
XM_011525035.1:c.-463+17597A>G (PYY) XP_011523337.1:n.-463+17597A>G
XM_011524439.2:c.204-49T>C (NAGS) XP_011522741.1:n.204-49T>C
NM_153006.3:c.702-49T>C (NAGS) MANE Select NP_694551.1:n.702-49T>C