Canonical Allele Identifier: CA1942272
Community Standard Title: NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165930289A>C , CM000664.2:g.165930289A>C GRCh38
NC_000002.11:g.166786799A>C , CM000664.1:g.166786799A>C GRCh37
NC_000002.10:g.166495045A>C NCBI36
NG_030345.1:g.28550T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.970T>G MANE Select NP_079029.3:p.Ser324Ala
ENST00000243344.8:c.970T>G MANE Select ENSP00000243344.7:p.Ser324Ala
NM_024753.4:c.970T>G NP_079029.3:p.Ser324Ala
ENST00000243344.7:c.970T>G ENSP00000243344.7:p.Ser324Ala
ENST00000464374.5:n.1010T>G
ENST00000652557.1:c.970T>G ENSP00000498617.1:p.Ser324Ala
ENST00000679356.1:c.970T>G ENSP00000506245.1:p.Ser324Ala
ENST00000679671.1:n.1083T>G
ENST00000679676.1:c.859T>G ENSP00000505492.1:p.Ser287Ala
ENST00000679799.1:c.970T>G ENSP00000505208.1:p.Ser324Ala
ENST00000679840.1:c.970T>G ENSP00000505248.1:p.Ser324Ala
ENST00000679931.1:c.*12T>G ENSP00000505632.1:n.*12T>G
ENST00000679967.1:c.970T>G ENSP00000506607.1:p.Ser324Ala
ENST00000680225.1:n.229T>G
ENST00000680327.1:c.*12T>G ENSP00000506639.1:n.*12T>G
ENST00000680448.1:c.970T>G ENSP00000505921.1:p.Ser324Ala
ENST00000680657.1:n.1081T>G
ENST00000680690.1:c.*222T>G ENSP00000506121.1:n.*222T>G
ENST00000680888.1:c.970T>G ENSP00000506276.1:p.Ser324Ala
ENST00000680947.1:c.*242T>G ENSP00000506496.1:n.*242T>G
ENST00000681024.1:c.970T>G ENSP00000506449.1:p.Ser324Ala
ENST00000681083.1:c.*704T>G ENSP00000506095.1:n.*704T>G
ENST00000681167.1:n.844T>G
ENST00000681483.1:c.970T>G ENSP00000505499.1:p.Ser324Ala
ENST00000681502.1:c.*394T>G ENSP00000505644.1:n.*394T>G
ENST00000681606.1:c.970T>G ENSP00000505354.1:p.Ser324Ala
ENST00000681819.1:c.970T>G ENSP00000505673.1:p.Ser324Ala
ENST00000681952.1:c.970T>G ENSP00000506400.1:p.Ser324Ala
XM_006712761.1:c.970T>G XP_006712824.1:p.Ser324Ala
XM_011511870.1:c.403T>G XP_011510172.1:p.Ser135Ala
XM_011511871.1:c.220T>G XP_011510173.1:p.Ser74Ala
XM_011511871.3:c.220T>G XP_011510173.1:p.Ser74Ala
XM_011511872.1:c.970T>G XP_011510174.1:p.Ser324Ala
XM_011511872.2:c.970T>G XP_011510174.1:p.Ser324Ala
XM_017004967.1:c.970T>G XP_016860456.1:p.Ser324Ala
XM_017004968.2:c.316T>G XP_016860457.1:p.Ser106Ala
XM_017004969.1:c.-30T>G XP_016860458.1:n.-30T>G