Canonical Allele Identifier: CA1941626
Community Standard Title: NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165890967C>T , CM000664.2:g.165890967C>T GRCh38
NC_000002.11:g.166747477C>T , CM000664.1:g.166747477C>T GRCh37
NC_000002.10:g.166455723C>T NCBI36
NG_030345.1:g.67872G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.2972G>A MANE Select NP_079029.3:p.Arg991His
ENST00000243344.8:c.2972G>A MANE Select ENSP00000243344.7:p.Arg991His
NM_024753.4:c.2972G>A NP_079029.3:p.Arg991His
ENST00000243344.7:c.2972G>A ENSP00000243344.7:p.Arg991His
ENST00000652557.1:c.2972G>A ENSP00000498617.1:p.Arg991His
ENST00000679356.1:c.2972G>A ENSP00000506245.1:p.Arg991His
ENST00000679676.1:c.2861G>A ENSP00000505492.1:p.Arg954His
ENST00000679799.1:c.2972G>A ENSP00000505208.1:p.Arg991His
ENST00000679840.1:c.2972G>A ENSP00000505248.1:p.Arg991His
ENST00000679931.1:c.*2014G>A ENSP00000505632.1:n.*2014G>A
ENST00000679967.1:c.2963G>A ENSP00000506607.1:p.Arg988His
ENST00000680327.1:c.*2014G>A ENSP00000506639.1:n.*2014G>A
ENST00000680657.1:n.3083G>A
ENST00000680690.1:c.*2224G>A ENSP00000506121.1:n.*2224G>A
ENST00000680888.1:c.2972G>A ENSP00000506276.1:p.Arg991His
ENST00000680925.1:n.1002G>A
ENST00000680947.1:c.*2244G>A ENSP00000506496.1:n.*2244G>A
ENST00000681024.1:c.2972G>A ENSP00000506449.1:p.Arg991His
ENST00000681083.1:c.*2706G>A ENSP00000506095.1:n.*2706G>A
ENST00000681167.1:n.2846G>A
ENST00000681483.1:c.2951-19G>A ENSP00000505499.1:n.2951-19G>A
ENST00000681502.1:c.*6232G>A ENSP00000505644.1:n.*6232G>A
ENST00000681819.1:c.2951-22G>A ENSP00000505673.1:n.2951-22G>A
ENST00000681952.1:c.2972G>A ENSP00000506400.1:p.Arg991His
XM_011511870.1:c.2405G>A XP_011510172.1:p.Arg802His
XM_011511871.1:c.2222G>A XP_011510173.1:p.Arg741His
XM_011511871.3:c.2222G>A XP_011510173.1:p.Arg741His
XM_011511872.1:c.*174G>A XP_011510174.1:n.*174G>A
XM_011511872.2:c.*174G>A XP_011510174.1:n.*174G>A
XM_017004967.1:c.2972G>A XP_016860456.1:p.Arg991His
XM_017004968.2:c.2318G>A XP_016860457.1:p.Arg773His
XM_017004969.1:c.1973G>A XP_016860458.1:p.Arg658His