Canonical Allele Identifier: CA7897989

Gene: TEKT5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10627626C>G , CM000678.2:g.10627626C>G	GRCh38
NC_000016.9:g.10721483C>G , CM000678.1:g.10721483C>G	GRCh37
NC_000016.8:g.10628984C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144674.2:c.1415G>C MANE Select	NP_653275.1:p.Arg472Pro
ENST00000283025.7:c.1415G>C MANE Select	ENSP00000283025.2:p.Arg472Pro
NM_144674.1:c.1415G>C	NP_653275.1:p.Arg472Pro
ENST00000283025.6:c.1415G>C	ENSP00000283025.2:p.Arg472Pro
ENST00000574923.1:n.398G>C
XM_011522383.1:c.1414+1G>C	XP_011520685.1:n.1414+1G>C
XM_011522384.1:c.1414+1G>C	XP_011520686.1:n.1414+1G>C
XM_011522385.1:c.1414+1G>C	XP_011520687.1:n.1414+1G>C
XM_011522386.1:c.1414+1G>C	XP_011520688.1:n.1414+1G>C
XM_011522387.1:c.1273+1G>C	XP_011520689.1:n.1273+1G>C
XM_011522388.1:c.1414+1G>C	XP_011520690.1:n.1414+1G>C
XM_011522389.1:c.1414+1G>C	XP_011520691.1:n.1414+1G>C
XM_011522390.1:c.1177+1G>C	XP_011520692.1:n.1177+1G>C