Canonical Allele Identifier: CA399726240

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1339663601
• gnomAD v2: 17-42083970-G-C
• gnomAD v4: 17-44006602-G-C
• MyVariant Identifiers: chr17:g.42083970G>C (hg19) ; chr17:g.44006602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006602G>C , CM000679.2:g.44006602G>C	GRCh38
NC_000017.10:g.42083970G>C , CM000679.1:g.42083970G>C	GRCh37
NC_000017.9:g.39439496G>C	NCBI36
NG_008106.1:g.6939G>C
NG_023338.1:g.2868C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.989G>C (NAGS) MANE Select	ENSP00000293404.2:p.Arg330Pro
ENST00000293404.7:c.989G>C (NAGS)	ENSP00000293404.2:p.Arg330Pro
ENST00000589767.1:c.896G>C (NAGS)	ENSP00000465408.1:p.Arg299Pro
ENST00000592915.1:n.264G>C (NAGS)
NM_153006.2:c.989G>C (NAGS)	NP_694551.1:p.Arg330Pro
XM_011524438.1:c.989G>C (NAGS)	XP_011522740.1:p.Arg330Pro
XM_011524439.1:c.491G>C (NAGS)	XP_011522741.1:p.Arg164Pro
XM_011525035.1:c.-463+16970C>G (PYY)	XP_011523337.1:n.-463+16970C>G
XM_011524439.2:c.491G>C (NAGS)	XP_011522741.1:p.Arg164Pro
NM_153006.3:c.989G>C (NAGS) MANE Select	NP_694551.1:p.Arg330Pro