Canonical Allele Identifier: CA2261182112

Linked Data

dbSNP Id: rs2049092151

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006432T>A , CM000679.2:g.44006432T>A GRCh38
NC_000017.10:g.42083800T>A , CM000679.1:g.42083800T>A GRCh37
NC_000017.9:g.39439326T>A NCBI36
NG_008106.1:g.6769T>A
NG_023338.1:g.3038A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-97T>A (NAGS) MANE Select ENSP00000293404.2:n.916-97T>A
ENST00000293404.7:c.916-97T>A (NAGS) ENSP00000293404.2:n.916-97T>A
ENST00000589767.1:c.823-97T>A (NAGS) ENSP00000465408.1:n.823-97T>A
ENST00000592915.1:n.191-97T>A (NAGS)
NM_153006.2:c.916-97T>A (NAGS) NP_694551.1:n.916-97T>A
XM_011524438.1:c.916-97T>A (NAGS) XP_011522740.1:n.916-97T>A
XM_011524439.1:c.418-97T>A (NAGS) XP_011522741.1:n.418-97T>A
XM_011525035.1:c.-463+17140A>T (PYY) XP_011523337.1:n.-463+17140A>T
XM_011524439.2:c.418-97T>A (NAGS) XP_011522741.1:n.418-97T>A
NM_153006.3:c.916-97T>A (NAGS) MANE Select NP_694551.1:n.916-97T>A