Canonical Allele Identifier: CA1866767197

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076935G= , CM000671.2:g.98076935G= GRCh38
NC_000009.11:g.100839217G= , CM000671.1:g.100839217G= GRCh37
NC_000009.10:g.99879038G= NCBI36
NG_052789.1:g.25259G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.366G= (NANS) MANE Select ENSP00000210444.5:p.Leu122=
ENST00000210444.5:c.366G= (NANS) ENSP00000210444.5:p.Leu122=
ENST00000375098.7:c.*29-7248C= (TRIM14) ENSP00000364239.3:n.*29-7248C=
ENST00000415280.1:c.-189G= (NANS) ENSP00000404107.1:n.-189G=
ENST00000461452.1:n.2293G= (NANS)
ENST00000495319.1:n.570G= (NANS)
NM_018946.3:c.366G= (NANS) NP_061819.2:p.Leu122=
XM_011518787.1:c.18G= (NANS) XP_011517089.1:p.Leu6=
XM_011518788.1:c.-11G= (NANS) XP_011517090.1:n.-11G=
XM_011518787.2:c.18G= (NANS) XP_011517089.1:p.Leu6=
XM_011518788.2:c.-11G= (NANS) XP_011517090.1:n.-11G=
XM_017014811.1:c.-189G= (NANS) XP_016870300.1:n.-189G=
XM_017015352.2:c.*29-4769C= (TRIM14) XP_016870841.1:n.*29-4769C=
XM_024447574.1:c.18G= (NANS) XP_024303342.1:p.Leu6=
NM_018946.4:c.366G= (NANS) MANE Select NP_061819.2:p.Leu122=