Canonical Allele Identifier: CA2261182186

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006561G= , CM000679.2:g.44006561G= GRCh38
NC_000017.10:g.42083929G= , CM000679.1:g.42083929G= GRCh37
NC_000017.9:g.39439455G= NCBI36
NG_008106.1:g.6898G=
NG_023338.1:g.2909C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.948G= (NAGS) MANE Select ENSP00000293404.2:p.Leu316=
ENST00000293404.7:c.948G= (NAGS) ENSP00000293404.2:p.Leu316=
ENST00000589767.1:c.855G= (NAGS) ENSP00000465408.1:p.Leu285=
ENST00000592915.1:n.223G= (NAGS)
NM_153006.2:c.948G= (NAGS) NP_694551.1:p.Leu316=
XM_011524438.1:c.948G= (NAGS) XP_011522740.1:p.Leu316=
XM_011524439.1:c.450G= (NAGS) XP_011522741.1:p.Leu150=
XM_011525035.1:c.-463+17011C= (PYY) XP_011523337.1:n.-463+17011C=
XM_011524439.2:c.450G= (NAGS) XP_011522741.1:p.Leu150=
NM_153006.3:c.948G= (NAGS) MANE Select NP_694551.1:p.Leu316=