Canonical Allele Identifier: CA399727850

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007703-T-C
• MyVariant Identifiers: chr17:g.42085071T>C (hg19) ; chr17:g.44007703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007703T>C , CM000679.2:g.44007703T>C	GRCh38
NC_000017.10:g.42085071T>C , CM000679.1:g.42085071T>C	GRCh37
NC_000017.9:g.39440597T>C	NCBI36
NG_008106.1:g.8040T>C
NG_023338.1:g.1767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1381T>C (NAGS) MANE Select	ENSP00000293404.2:p.Trp461Arg
ENST00000293404.7:c.1381T>C (NAGS)	ENSP00000293404.2:p.Trp461Arg
ENST00000589767.1:c.1312T>C (NAGS)	ENSP00000465408.1:p.Trp438Arg
ENST00000592915.1:n.1269T>C (NAGS)
NM_153006.2:c.1381T>C (NAGS)	NP_694551.1:p.Trp461Arg
XM_011524438.1:c.1268+209T>C (NAGS)	XP_011522740.1:n.1268+209T>C
XM_011524439.1:c.883T>C (NAGS)	XP_011522741.1:p.Trp295Arg
XM_011525035.1:c.-463+15869A>G (PYY)	XP_011523337.1:n.-463+15869A>G
XM_011524439.2:c.883T>C (NAGS)	XP_011522741.1:p.Trp295Arg
NM_153006.3:c.1381T>C (NAGS) MANE Select	NP_694551.1:p.Trp461Arg