Canonical Allele Identifier: CA2638146900
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

gnomAD v4: 17-44006496-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006496T>C , CM000679.2:g.44006496T>C GRCh38
NC_000017.10:g.42083864T>C , CM000679.1:g.42083864T>C GRCh37
NC_000017.9:g.39439390T>C NCBI36
NG_008106.1:g.6833T>C
NG_023338.1:g.2974A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.916-33T>C (NAGS) MANE Select ENSP00000293404.2:n.916-33T>C
ENST00000293404.7:c.916-33T>C (NAGS) ENSP00000293404.2:n.916-33T>C
ENST00000589767.1:c.823-33T>C (NAGS) ENSP00000465408.1:n.823-33T>C
ENST00000592915.1:n.191-33T>C (NAGS)
NM_153006.2:c.916-33T>C (NAGS) NP_694551.1:n.916-33T>C
XM_011524438.1:c.916-33T>C (NAGS) XP_011522740.1:n.916-33T>C
XM_011524439.1:c.418-33T>C (NAGS) XP_011522741.1:n.418-33T>C
XM_011525035.1:c.-463+17076A>G (PYY) XP_011523337.1:n.-463+17076A>G
XM_011524439.2:c.418-33T>C (NAGS) XP_011522741.1:n.418-33T>C
NM_153006.3:c.916-33T>C (NAGS) MANE Select NP_694551.1:n.916-33T>C
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