Canonical Allele Identifier: CA626222680

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2807925
• ClinVar RCV Id: RCV003604124
• dbSNP Id: rs1377256224
• gnomAD v2: 17-42084091-G-C
• gnomAD v4: 17-44006723-G-C
• MyVariant Identifiers: chr17:g.42084091G>C (hg19) ; chr17:g.44006723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006723G>C , CM000679.2:g.44006723G>C	GRCh38
NC_000017.10:g.42084091G>C , CM000679.1:g.42084091G>C	GRCh37
NC_000017.9:g.39439617G>C	NCBI36
NG_008106.1:g.7060G>C
NG_023338.1:g.2747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1096+14G>C (NAGS) MANE Select	ENSP00000293404.2:n.1096+14G>C
ENST00000293404.7:c.1096+14G>C (NAGS)	ENSP00000293404.2:n.1096+14G>C
ENST00000589767.1:c.1003+14G>C (NAGS)	ENSP00000465408.1:n.1003+14G>C
ENST00000592915.1:n.385G>C (NAGS)
NM_153006.2:c.1096+14G>C (NAGS)	NP_694551.1:n.1096+14G>C
XM_011524438.1:c.1096+14G>C (NAGS)	XP_011522740.1:n.1096+14G>C
XM_011524439.1:c.598+14G>C (NAGS)	XP_011522741.1:n.598+14G>C
XM_011525035.1:c.-463+16849C>G (PYY)	XP_011523337.1:n.-463+16849C>G
XM_011524439.2:c.598+14G>C (NAGS)	XP_011522741.1:n.598+14G>C
NM_153006.3:c.1096+14G>C (NAGS) MANE Select	NP_694551.1:n.1096+14G>C