Canonical Allele Identifier: CA374197598

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076963G>C , CM000671.2:g.98076963G>C GRCh38
NC_000009.11:g.100839245G>C , CM000671.1:g.100839245G>C GRCh37
NC_000009.10:g.99879066G>C NCBI36
NG_052789.1:g.25287G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.394G>C (NANS) MANE Select ENSP00000210444.5:p.Val132Leu
ENST00000210444.5:c.394G>C (NANS) ENSP00000210444.5:p.Val132Leu
ENST00000375098.7:c.*29-7276C>G (TRIM14) ENSP00000364239.3:n.*29-7276C>G
ENST00000415280.1:c.-161G>C (NANS) ENSP00000404107.1:n.-161G>C
ENST00000461452.1:n.2321G>C (NANS)
ENST00000495319.1:n.598G>C (NANS)
NM_018946.3:c.394G>C (NANS) NP_061819.2:p.Val132Leu
XM_011518787.1:c.46G>C (NANS) XP_011517089.1:p.Val16Leu
XM_011518788.1:c.18G>C (NANS) XP_011517090.1:p.Lys6Asn
XM_011518787.2:c.46G>C (NANS) XP_011517089.1:p.Val16Leu
XM_011518788.2:c.18G>C (NANS) XP_011517090.1:p.Lys6Asn
XM_017014811.1:c.-161G>C (NANS) XP_016870300.1:n.-161G>C
XM_017015352.2:c.*29-4797C>G (TRIM14) XP_016870841.1:n.*29-4797C>G
XM_024447574.1:c.46G>C (NANS) XP_024303342.1:p.Val16Leu
NM_018946.4:c.394G>C (NANS) MANE Select NP_061819.2:p.Val132Leu