Canonical Allele Identifier: CA500241060

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1130214
• ClinVar RCV Id: RCV001463669
• dbSNP Id: rs2143986837
• MyVariant Identifiers: chr17:g.42083914C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006546C>T , CM000679.2:g.44006546C>T	GRCh38
NC_000017.10:g.42083914C>T , CM000679.1:g.42083914C>T	GRCh37
NC_000017.9:g.39439440C>T	NCBI36
NG_008106.1:g.6883C>T
NG_023338.1:g.2924G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.933C>T (NAGS) MANE Select	ENSP00000293404.2:p.Asn311=
ENST00000293404.7:c.933C>T (NAGS)	ENSP00000293404.2:p.Asn311=
ENST00000589767.1:c.840C>T (NAGS)	ENSP00000465408.1:p.Asn280=
ENST00000592915.1:n.208C>T (NAGS)
NM_153006.2:c.933C>T (NAGS)	NP_694551.1:p.Asn311=
XM_011524438.1:c.933C>T (NAGS)	XP_011522740.1:p.Asn311=
XM_011524439.1:c.435C>T (NAGS)	XP_011522741.1:p.Asn145=
XM_011525035.1:c.-463+17026G>A (PYY)	XP_011523337.1:n.-463+17026G>A
XM_011524439.2:c.435C>T (NAGS)	XP_011522741.1:p.Asn145=
NM_153006.3:c.933C>T (NAGS) MANE Select	NP_694551.1:p.Asn311=