Canonical Allele Identifier: CA8595340

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2197602
• ClinVar RCV Id: RCV002637823
• dbSNP Id: rs201892667
• ExAC: 17:42084793 G / C
• gnomAD v2: 17-42084793-G-C
• gnomAD v3: 17-44007425-G-C
• gnomAD v4: 17-44007425-G-C
• MyVariant Identifiers: chr17:g.42084793G>C (hg19) ; chr17:g.44007425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007425G>C , CM000679.2:g.44007425G>C	GRCh38
NC_000017.10:g.42084793G>C , CM000679.1:g.42084793G>C	GRCh37
NC_000017.9:g.39440319G>C	NCBI36
NG_008106.1:g.7762G>C
NG_023338.1:g.2045C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1199G>C (NAGS) MANE Select	ENSP00000293404.2:p.Gly400Ala
ENST00000293404.7:c.1199G>C (NAGS)	ENSP00000293404.2:p.Gly400Ala
ENST00000589767.1:c.1106G>C (NAGS)	ENSP00000465408.1:p.Gly369Ala
ENST00000592915.1:n.1087G>C (NAGS)
NM_153006.2:c.1199G>C (NAGS)	NP_694551.1:p.Gly400Ala
XM_011524438.1:c.1199G>C (NAGS)	XP_011522740.1:p.Gly400Ala
XM_011524439.1:c.701G>C (NAGS)	XP_011522741.1:p.Gly234Ala
XM_011525035.1:c.-463+16147C>G (PYY)	XP_011523337.1:n.-463+16147C>G
XM_011524439.2:c.701G>C (NAGS)	XP_011522741.1:p.Gly234Ala
NM_153006.3:c.1199G>C (NAGS) MANE Select	NP_694551.1:p.Gly400Ala