Canonical Allele Identifier: CA380680639
Community Standard Title: NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)
Gene: TKFC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61345352G>A , CM000673.2:g.61345352G>A GRCh38
NC_000011.9:g.61112824G>A , CM000673.1:g.61112824G>A GRCh37
NC_000011.8:g.60869400G>A NCBI36
NG_032697.2:g.2245C>T , LRG_474:g.2245C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015533.4:c.1333G>A MANE Select NP_056348.2:p.Gly445Ser
ENST00000394900.8:c.1333G>A MANE Select ENSP00000378360.3:p.Gly445Ser
NM_001351976.1:c.1333G>A NP_001338905.1:p.Gly445Ser
NM_001351976.2:c.1333G>A NP_001338905.1:p.Gly445Ser
NM_001351977.1:c.1333G>A NP_001338906.1:p.Gly445Ser
NM_001351977.2:c.1333G>A NP_001338906.1:p.Gly445Ser
NM_001351978.1:c.1333G>A NP_001338907.1:p.Gly445Ser
NM_001351978.2:c.1333G>A NP_001338907.1:p.Gly445Ser
NM_001351979.1:c.1333G>A NP_001338908.1:p.Gly445Ser
NM_001351979.2:c.1333G>A NP_001338908.1:p.Gly445Ser
NM_001351980.1:c.1123G>A NP_001338909.1:p.Gly375Ser
NM_001351980.2:c.1123G>A NP_001338909.1:p.Gly375Ser
NM_015533.3:c.1333G>A NP_056348.2:p.Gly445Ser
ENST00000394900.7:c.1333G>A ENSP00000378360.3:p.Gly445Ser
ENST00000524440.1:n.34G>A
ENST00000525366.5:n.39G>A
ENST00000529479.5:c.1330G>A ENSP00000432539.1:p.Gly444Ser
ENST00000534084.1:c.286G>A ENSP00000459382.1:p.Gly96Ser
ENST00000617083.4:c.1336G>A ENSP00000478735.1:p.Gly446Ser
XM_011544910.1:c.1471G>A XP_011543212.1:p.Gly491Ser
XM_011544911.1:c.1471G>A XP_011543213.1:p.Gly491Ser
XM_011544912.1:c.1471G>A XP_011543214.1:p.Gly491Ser
XM_011544912.3:c.1471G>A XP_011543214.1:p.Gly491Ser
XM_011544913.1:c.1471G>A XP_011543215.1:p.Gly491Ser
XM_011544914.1:c.1471G>A XP_011543216.1:p.Gly491Ser
XM_011544915.1:c.1471G>A XP_011543217.1:p.Gly491Ser
XM_011544916.1:c.1333G>A XP_011543218.1:p.Gly445Ser
XM_011544917.1:c.1333G>A XP_011543219.1:p.Gly445Ser
XM_011544918.1:c.1471G>A XP_011543220.1:p.Gly491Ser
XM_011544919.1:c.1123G>A XP_011543221.1:p.Gly375Ser
XM_011544920.1:c.1123G>A XP_011543222.1:p.Gly375Ser
XM_011544921.1:c.1123G>A XP_011543223.1:p.Gly375Ser
XM_011544922.1:c.1123G>A XP_011543224.1:p.Gly375Ser
XM_011544923.1:c.1123G>A XP_011543225.1:p.Gly375Ser
XM_017017517.1:c.1471G>A XP_016873006.1:p.Gly491Ser
XM_017017518.1:c.1471G>A XP_016873007.1:p.Gly491Ser
XM_017017519.2:c.1333G>A XP_016873008.1:p.Gly445Ser
XM_017017520.1:c.1471G>A XP_016873009.1:p.Gly491Ser