Canonical Allele Identifier: CA466419762

Linked Data

MyVariant Identifiers: chr9:g.100839247T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076965T>G , CM000671.2:g.98076965T>G GRCh38
NC_000009.11:g.100839247T>G , CM000671.1:g.100839247T>G GRCh37
NC_000009.10:g.99879068T>G NCBI36
NG_052789.1:g.25289T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.396T>G (NANS) MANE Select ENSP00000210444.5:p.Val132=
ENST00000210444.5:c.396T>G (NANS) ENSP00000210444.5:p.Val132=
ENST00000375098.7:c.*29-7278A>C (TRIM14) ENSP00000364239.3:n.*29-7278A>C
ENST00000415280.1:c.-159T>G (NANS) ENSP00000404107.1:n.-159T>G
ENST00000461452.1:n.2323T>G (NANS)
ENST00000495319.1:n.600T>G (NANS)
NM_018946.3:c.396T>G (NANS) NP_061819.2:p.Val132=
XM_011518787.1:c.48T>G (NANS) XP_011517089.1:p.Val16=
XM_011518788.1:c.20T>G (NANS) XP_011517090.1:p.Leu7Trp
XM_011518787.2:c.48T>G (NANS) XP_011517089.1:p.Val16=
XM_011518788.2:c.20T>G (NANS) XP_011517090.1:p.Leu7Trp
XM_017014811.1:c.-159T>G (NANS) XP_016870300.1:n.-159T>G
XM_017015352.2:c.*29-4799A>C (TRIM14) XP_016870841.1:n.*29-4799A>C
XM_024447574.1:c.48T>G (NANS) XP_024303342.1:p.Val16=
NM_018946.4:c.396T>G (NANS) MANE Select NP_061819.2:p.Val132=