Canonical Allele Identifier: CA772277977

Linked Data

dbSNP Id: rs1229664642

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006423G>A , CM000679.2:g.44006423G>A GRCh38
NC_000017.10:g.42083791G>A , CM000679.1:g.42083791G>A GRCh37
NC_000017.9:g.39439317G>A NCBI36
NG_008106.1:g.6760G>A
NG_023338.1:g.3047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-106G>A (NAGS) MANE Select ENSP00000293404.2:n.916-106G>A
ENST00000293404.7:c.916-106G>A (NAGS) ENSP00000293404.2:n.916-106G>A
ENST00000589767.1:c.823-106G>A (NAGS) ENSP00000465408.1:n.823-106G>A
ENST00000592915.1:n.191-106G>A (NAGS)
NM_153006.2:c.916-106G>A (NAGS) NP_694551.1:n.916-106G>A
XM_011524438.1:c.916-106G>A (NAGS) XP_011522740.1:n.916-106G>A
XM_011524439.1:c.418-106G>A (NAGS) XP_011522741.1:n.418-106G>A
XM_011525035.1:c.-463+17149C>T (PYY) XP_011523337.1:n.-463+17149C>T
XM_011524439.2:c.418-106G>A (NAGS) XP_011522741.1:n.418-106G>A
NM_153006.3:c.916-106G>A (NAGS) MANE Select NP_694551.1:n.916-106G>A