Canonical Allele Identifier: CA399727574

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007629-T-C
• MyVariant Identifiers: chr17:g.42084997T>C (hg19) ; chr17:g.44007629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007629T>C , CM000679.2:g.44007629T>C	GRCh38
NC_000017.10:g.42084997T>C , CM000679.1:g.42084997T>C	GRCh37
NC_000017.9:g.39440523T>C	NCBI36
NG_008106.1:g.7966T>C
NG_023338.1:g.1841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1307T>C (NAGS) MANE Select	ENSP00000293404.2:p.Leu436Pro
ENST00000293404.7:c.1307T>C (NAGS)	ENSP00000293404.2:p.Leu436Pro
ENST00000589767.1:c.1238T>C (NAGS)	ENSP00000465408.1:p.Leu413Pro
ENST00000592915.1:n.1195T>C (NAGS)
NM_153006.2:c.1307T>C (NAGS)	NP_694551.1:p.Leu436Pro
XM_011524438.1:c.1268+135T>C (NAGS)	XP_011522740.1:n.1268+135T>C
XM_011524439.1:c.809T>C (NAGS)	XP_011522741.1:p.Leu270Pro
XM_011525035.1:c.-463+15943A>G (PYY)	XP_011523337.1:n.-463+15943A>G
XM_011524439.2:c.809T>C (NAGS)	XP_011522741.1:p.Leu270Pro
NM_153006.3:c.1307T>C (NAGS) MANE Select	NP_694551.1:p.Leu436Pro