Canonical Allele Identifier: CA5653373

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993413C>T , CM000672.2:g.100993413C>T	GRCh38
NC_000010.10:g.102753170C>T , CM000672.1:g.102753170C>T	GRCh37
NC_000010.9:g.102743160C>T	NCBI36
NG_012624.1:g.10878C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1958C>T MANE Select	NP_068602.2:p.Ser653Phe
ENST00000311916.8:c.1958C>T MANE Select	ENSP00000309595.2:p.Ser653Phe
NM_001163812.1:c.*253C>T	NP_001157284.1:n.*253C>T
NM_001163812.2:c.*253C>T	NP_001157284.1:n.*253C>T
NM_001163813.1:c.596C>T	NP_001157285.1:p.Ser199Phe
NM_001163813.2:c.596C>T	NP_001157285.1:p.Ser199Phe
NM_001163814.1:c.*253C>T	NP_001157286.1:n.*253C>T
NM_001163814.2:c.*253C>T	NP_001157286.1:n.*253C>T
NM_001368275.1:c.596C>T	NP_001355204.1:p.Ser199Phe
NM_021830.4:c.1958C>T	NP_068602.2:p.Ser653Phe
NR_160738.1:n.2746C>T
NR_160739.1:n.950C>T
NR_160740.1:n.2608C>T
NR_160741.1:n.2564C>T
NR_160742.1:n.2728C>T
ENST00000311916.6:c.1958C>T	ENSP00000309595.2:p.Ser653Phe
ENST00000370228.1:c.*253C>T	ENSP00000359248.1:n.*253C>T
ENST00000370228.2:c.*253C>T	ENSP00000359248.1:n.*253C>T
ENST00000473656.5:n.779C>T
ENST00000643860.1:c.*482C>T	ENSP00000494389.1:n.*482C>T
ENST00000647109.1:c.661C>T
ENST00000650396.1:c.1083C>T
XM_011539974.1:c.596C>T	XP_011538276.1:p.Ser199Phe
XM_011539975.1:c.596C>T	XP_011538277.1:p.Ser199Phe
XM_011539975.2:c.596C>T	XP_011538277.1:p.Ser199Phe
XM_017016437.1:c.596C>T	XP_016871926.1:p.Ser199Phe
XR_001747142.1:n.2252C>T
XR_001747144.1:n.2234C>T
XR_002956991.1:n.2070C>T
XR_945788.2:n.2114C>T