Canonical Allele Identifier: CA399727517

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42084984A>C (hg19) ; chr17:g.44007616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007616A>C , CM000679.2:g.44007616A>C	GRCh38
NC_000017.10:g.42084984A>C , CM000679.1:g.42084984A>C	GRCh37
NC_000017.9:g.39440510A>C	NCBI36
NG_008106.1:g.7953A>C
NG_023338.1:g.1854T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1294A>C (NAGS) MANE Select	ENSP00000293404.2:p.Met432Leu
ENST00000293404.7:c.1294A>C (NAGS)	ENSP00000293404.2:p.Met432Leu
ENST00000589767.1:c.1225A>C (NAGS)	ENSP00000465408.1:p.Met409Leu
ENST00000592915.1:n.1182A>C (NAGS)
NM_153006.2:c.1294A>C (NAGS)	NP_694551.1:p.Met432Leu
XM_011524438.1:c.1268+122A>C (NAGS)	XP_011522740.1:n.1268+122A>C
XM_011524439.1:c.796A>C (NAGS)	XP_011522741.1:p.Met266Leu
XM_011525035.1:c.-463+15956T>G (PYY)	XP_011523337.1:n.-463+15956T>G
XM_011524439.2:c.796A>C (NAGS)	XP_011522741.1:p.Met266Leu
NM_153006.3:c.1294A>C (NAGS) MANE Select	NP_694551.1:p.Met432Leu