Canonical Allele Identifier: CA2638146913
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

gnomAD v4: 17-44006517-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006517C>T , CM000679.2:g.44006517C>T GRCh38
NC_000017.10:g.42083885C>T , CM000679.1:g.42083885C>T GRCh37
NC_000017.9:g.39439411C>T NCBI36
NG_008106.1:g.6854C>T
NG_023338.1:g.2953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-12C>T (NAGS) MANE Select ENSP00000293404.2:n.916-12C>T
ENST00000293404.7:c.916-12C>T (NAGS) ENSP00000293404.2:n.916-12C>T
ENST00000589767.1:c.823-12C>T (NAGS) ENSP00000465408.1:n.823-12C>T
ENST00000592915.1:n.191-12C>T (NAGS)
NM_153006.2:c.916-12C>T (NAGS) NP_694551.1:n.916-12C>T
XM_011524438.1:c.916-12C>T (NAGS) XP_011522740.1:n.916-12C>T
XM_011524439.1:c.418-12C>T (NAGS) XP_011522741.1:n.418-12C>T
XM_011525035.1:c.-463+17055G>A (PYY) XP_011523337.1:n.-463+17055G>A
XM_011524439.2:c.418-12C>T (NAGS) XP_011522741.1:n.418-12C>T
NM_153006.3:c.916-12C>T (NAGS) MANE Select NP_694551.1:n.916-12C>T
Search 100 bp 5'
Search 100 bp 3'