Canonical Allele Identifier: CA500241095

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006591-C-T
• COSMIC: COSM4921167
• MyVariant Identifiers: chr17:g.42083959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006591C>T , CM000679.2:g.44006591C>T	GRCh38
NC_000017.10:g.42083959C>T , CM000679.1:g.42083959C>T	GRCh37
NC_000017.9:g.39439485C>T	NCBI36
NG_008106.1:g.6928C>T
NG_023338.1:g.2879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.978C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ser326=
ENST00000293404.7:c.978C>T (NAGS)	ENSP00000293404.2:p.Ser326=
ENST00000589767.1:c.885C>T (NAGS)	ENSP00000465408.1:p.Ser295=
ENST00000592915.1:n.253C>T (NAGS)
NM_153006.2:c.978C>T (NAGS)	NP_694551.1:p.Ser326=
XM_011524438.1:c.978C>T (NAGS)	XP_011522740.1:p.Ser326=
XM_011524439.1:c.480C>T (NAGS)	XP_011522741.1:p.Ser160=
XM_011525035.1:c.-463+16981G>A (PYY)	XP_011523337.1:n.-463+16981G>A
XM_011524439.2:c.480C>T (NAGS)	XP_011522741.1:p.Ser160=
NM_153006.3:c.978C>T (NAGS) MANE Select	NP_694551.1:p.Ser326=