Canonical Allele Identifier: CA500616140

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006178-C-A
• MyVariant Identifiers: chr17:g.42083546C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006178C>A , CM000679.2:g.44006178C>A	GRCh38
NC_000017.10:g.42083546C>A , CM000679.1:g.42083546C>A	GRCh37
NC_000017.9:g.39439072C>A	NCBI36
NG_008106.1:g.6515C>A
NG_023338.1:g.3292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.856C>A (NAGS) MANE Select	ENSP00000293404.2:p.Arg286=
ENST00000293404.7:c.856C>A (NAGS)	ENSP00000293404.2:p.Arg286=
ENST00000589767.1:c.763C>A (NAGS)	ENSP00000465408.1:p.Arg255=
ENST00000592915.1:n.131C>A (NAGS)
NM_153006.2:c.856C>A (NAGS)	NP_694551.1:p.Arg286=
XM_011524438.1:c.856C>A (NAGS)	XP_011522740.1:p.Arg286=
XM_011524439.1:c.358C>A (NAGS)	XP_011522741.1:p.Arg120=
XM_011525035.1:c.-463+17394G>T (PYY)	XP_011523337.1:n.-463+17394G>T
XM_011524439.2:c.358C>A (NAGS)	XP_011522741.1:p.Arg120=
NM_153006.3:c.856C>A (NAGS) MANE Select	NP_694551.1:p.Arg286=