Canonical Allele Identifier: CA500616052

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1230274018
• gnomAD v2: 17-42083473-C-A
• gnomAD v3: 17-44006105-C-A
• gnomAD v4: 17-44006105-C-A
• MyVariant Identifiers: chr17:g.42083473C>A (hg19) ; chr17:g.44006105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006105C>A , CM000679.2:g.44006105C>A	GRCh38
NC_000017.10:g.42083473C>A , CM000679.1:g.42083473C>A	GRCh37
NC_000017.9:g.39438999C>A	NCBI36
NG_008106.1:g.6442C>A
NG_023338.1:g.3365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.783C>A (NAGS) MANE Select	ENSP00000293404.2:p.Ile261=
ENST00000293404.7:c.783C>A (NAGS)	ENSP00000293404.2:p.Ile261=
ENST00000589767.1:c.690C>A (NAGS)	ENSP00000465408.1:p.Ile230=
ENST00000592915.1:n.58C>A (NAGS)
NM_153006.2:c.783C>A (NAGS)	NP_694551.1:p.Ile261=
XM_011524438.1:c.783C>A (NAGS)	XP_011522740.1:p.Ile261=
XM_011524439.1:c.285C>A (NAGS)	XP_011522741.1:p.Ile95=
XM_011525035.1:c.-463+17467G>T (PYY)	XP_011523337.1:n.-463+17467G>T
XM_011524439.2:c.285C>A (NAGS)	XP_011522741.1:p.Ile95=
NM_153006.3:c.783C>A (NAGS) MANE Select	NP_694551.1:p.Ile261=