Canonical Allele Identifier: CA2638146794
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

dbSNP Id: rs2143986383
gnomAD v4: 17-44006418-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006418A>G , CM000679.2:g.44006418A>G GRCh38
NC_000017.10:g.42083786A>G , CM000679.1:g.42083786A>G GRCh37
NC_000017.9:g.39439312A>G NCBI36
NG_008106.1:g.6755A>G
NG_023338.1:g.3052T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-111A>G (NAGS) MANE Select ENSP00000293404.2:n.916-111A>G
ENST00000293404.7:c.916-111A>G (NAGS) ENSP00000293404.2:n.916-111A>G
ENST00000589767.1:c.823-111A>G (NAGS) ENSP00000465408.1:n.823-111A>G
ENST00000592915.1:n.191-111A>G (NAGS)
NM_153006.2:c.916-111A>G (NAGS) NP_694551.1:n.916-111A>G
XM_011524438.1:c.916-111A>G (NAGS) XP_011522740.1:n.916-111A>G
XM_011524439.1:c.418-111A>G (NAGS) XP_011522741.1:n.418-111A>G
XM_011525035.1:c.-463+17154T>C (PYY) XP_011523337.1:n.-463+17154T>C
XM_011524439.2:c.418-111A>G (NAGS) XP_011522741.1:n.418-111A>G
NM_153006.3:c.916-111A>G (NAGS) MANE Select NP_694551.1:n.916-111A>G
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