Canonical Allele Identifier: CA2638146012

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005978G>T , CM000679.2:g.44005978G>T GRCh38
NC_000017.10:g.42083346G>T , CM000679.1:g.42083346G>T GRCh37
NC_000017.9:g.39438872G>T NCBI36
NG_008106.1:g.6315G>T
NG_023338.1:g.3492C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.702-46G>T (NAGS) MANE Select ENSP00000293404.2:n.702-46G>T
ENST00000293404.7:c.702-46G>T (NAGS) ENSP00000293404.2:n.702-46G>T
ENST00000589767.1:c.609-46G>T (NAGS) ENSP00000465408.1:n.609-46G>T
NM_153006.2:c.702-46G>T (NAGS) NP_694551.1:n.702-46G>T
XM_011524438.1:c.702-46G>T (NAGS) XP_011522740.1:n.702-46G>T
XM_011524439.1:c.204-46G>T (NAGS) XP_011522741.1:n.204-46G>T
XM_011525035.1:c.-463+17594C>A (PYY) XP_011523337.1:n.-463+17594C>A
XM_011524439.2:c.204-46G>T (NAGS) XP_011522741.1:n.204-46G>T
NM_153006.3:c.702-46G>T (NAGS) MANE Select NP_694551.1:n.702-46G>T