Canonical Allele Identifier: CA2638146819

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006438T>G , CM000679.2:g.44006438T>G GRCh38
NC_000017.10:g.42083806T>G , CM000679.1:g.42083806T>G GRCh37
NC_000017.9:g.39439332T>G NCBI36
NG_008106.1:g.6775T>G
NG_023338.1:g.3032A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-91T>G (NAGS) MANE Select ENSP00000293404.2:n.916-91T>G
ENST00000293404.7:c.916-91T>G (NAGS) ENSP00000293404.2:n.916-91T>G
ENST00000589767.1:c.823-91T>G (NAGS) ENSP00000465408.1:n.823-91T>G
ENST00000592915.1:n.191-91T>G (NAGS)
NM_153006.2:c.916-91T>G (NAGS) NP_694551.1:n.916-91T>G
XM_011524438.1:c.916-91T>G (NAGS) XP_011522740.1:n.916-91T>G
XM_011524439.1:c.418-91T>G (NAGS) XP_011522741.1:n.418-91T>G
XM_011525035.1:c.-463+17134A>C (PYY) XP_011523337.1:n.-463+17134A>C
XM_011524439.2:c.418-91T>G (NAGS) XP_011522741.1:n.418-91T>G
NM_153006.3:c.916-91T>G (NAGS) MANE Select NP_694551.1:n.916-91T>G