Canonical Allele Identifier: CA320475
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 214186
ClinVar RCV Id: RCV000196072
dbSNP Id: rs749345054
ExAC: 10:102749196 T / G
gnomAD v2: 10-102749196-T-G
gnomAD v4: 10-100989439-T-G
MyVariant Identifiers: chr10:g.102749196T>G (hg19) chr10:g.100989439T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100989439T>G , CM000672.2:g.100989439T>G GRCh38
NC_000010.10:g.102749196T>G , CM000672.1:g.102749196T>G GRCh37
NC_000010.9:g.102739186T>G NCBI36
NG_011646.1:g.3077A>C
NG_012624.1:g.6904T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000311916.8:c.1229T>G MANE Select ENSP00000309595.2:p.Leu410Arg
ENST00000370228.2:c.1229T>G ENSP00000359248.1:p.Leu410Arg
ENST00000643860.1:c.1229T>G ENSP00000494389.1:p.Leu410Arg
ENST00000646226.1:n.59-205T>G
ENST00000650396.1:c.252T>G
ENST00000311916.6:c.1229T>G ENSP00000309595.2:p.Leu410Arg
ENST00000370228.1:c.1229T>G ENSP00000359248.1:p.Leu410Arg
ENST00000459764.1:n.87-205T>G
ENST00000473656.5:n.65-205T>G
ENST00000476766.5:n.192-267T>G
NM_001163812.1:c.1229T>G NP_001157284.1:p.Leu410Arg
NM_001163813.1:c.-119-205T>G NP_001157285.1:n.-119-205T>G
NM_001163814.1:c.-119-205T>G NP_001157286.1:n.-119-205T>G
NM_021830.4:c.1229T>G NP_068602.2:p.Leu410Arg
XM_011539974.1:c.-72T>G XP_011538276.1:n.-72T>G
XM_011539975.1:c.-57-267T>G XP_011538277.1:n.-57-267T>G
XR_945788.1:n.2062T>G
XM_011539975.2:c.-57-267T>G XP_011538277.1:n.-57-267T>G
XM_017016437.1:c.-72T>G XP_016871926.1:n.-72T>G
XR_001747142.1:n.1403T>G
XR_001747144.1:n.1403T>G
XR_002956991.1:n.1403T>G
XR_945788.2:n.1403T>G
NM_021830.5:c.1229T>G MANE Select NP_068602.2:p.Leu410Arg
NM_001163812.2:c.1229T>G NP_001157284.1:p.Leu410Arg
NM_001163813.2:c.-119-205T>G NP_001157285.1:n.-119-205T>G
NM_001163814.2:c.-119-205T>G NP_001157286.1:n.-119-205T>G
NM_001368275.1:c.-57-267T>G NP_001355204.1:n.-57-267T>G
NR_160738.1:n.1897T>G
NR_160739.1:n.72-205T>G
NR_160740.1:n.1897T>G
NR_160741.1:n.1897T>G
NR_160742.1:n.1897T>G
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