Canonical Allele Identifier: CA290853208

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs914617998
• gnomAD v4: 17-44006668-C-G
• MyVariant Identifiers: chr17:g.42084036C>G (hg19) ; chr17:g.44006668C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006668C>G , CM000679.2:g.44006668C>G	GRCh38
NC_000017.10:g.42084036C>G , CM000679.1:g.42084036C>G	GRCh37
NC_000017.9:g.39439562C>G	NCBI36
NG_008106.1:g.7005C>G
NG_023338.1:g.2802G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1055C>G (NAGS) MANE Select	ENSP00000293404.2:p.Thr352Ser
ENST00000293404.7:c.1055C>G (NAGS)	ENSP00000293404.2:p.Thr352Ser
ENST00000589767.1:c.962C>G (NAGS)	ENSP00000465408.1:p.Thr321Ser
ENST00000592915.1:n.330C>G (NAGS)
NM_153006.2:c.1055C>G (NAGS)	NP_694551.1:p.Thr352Ser
XM_011524438.1:c.1055C>G (NAGS)	XP_011522740.1:p.Thr352Ser
XM_011524439.1:c.557C>G (NAGS)	XP_011522741.1:p.Thr186Ser
XM_011525035.1:c.-463+16904G>C (PYY)	XP_011523337.1:n.-463+16904G>C
XM_011524439.2:c.557C>G (NAGS)	XP_011522741.1:p.Thr186Ser
NM_153006.3:c.1055C>G (NAGS) MANE Select	NP_694551.1:p.Thr352Ser