Canonical Allele Identifier: CA399725560

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1430174905
• gnomAD v2: 17-42083498-G-C
• gnomAD v3: 17-44006130-G-C
• gnomAD v4: 17-44006130-G-C
• MyVariant Identifiers: chr17:g.42083498G>C (hg19) ; chr17:g.44006130G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006130G>C , CM000679.2:g.44006130G>C	GRCh38
NC_000017.10:g.42083498G>C , CM000679.1:g.42083498G>C	GRCh37
NC_000017.9:g.39439024G>C	NCBI36
NG_008106.1:g.6467G>C
NG_023338.1:g.3340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.808G>C (NAGS) MANE Select	ENSP00000293404.2:p.Val270Leu
ENST00000293404.7:c.808G>C (NAGS)	ENSP00000293404.2:p.Val270Leu
ENST00000589767.1:c.715G>C (NAGS)	ENSP00000465408.1:p.Val239Leu
ENST00000592915.1:n.83G>C (NAGS)
NM_153006.2:c.808G>C (NAGS)	NP_694551.1:p.Val270Leu
XM_011524438.1:c.808G>C (NAGS)	XP_011522740.1:p.Val270Leu
XM_011524439.1:c.310G>C (NAGS)	XP_011522741.1:p.Val104Leu
XM_011525035.1:c.-463+17442C>G (PYY)	XP_011523337.1:n.-463+17442C>G
XM_011524439.2:c.310G>C (NAGS)	XP_011522741.1:p.Val104Leu
NM_153006.3:c.808G>C (NAGS) MANE Select	NP_694551.1:p.Val270Leu