Canonical Allele Identifier: CA10305908
Community Standard Title: NM_001320485.2(TRABD):c.724G>A (p.Ala242Thr)
Gene: TRABD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50197875G>A , CM000684.2:g.50197875G>A GRCh38
NC_000022.10:g.50636304G>A , CM000684.1:g.50636304G>A GRCh37
NC_000022.9:g.48978431G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001320485.2:c.724G>A MANE Select NP_001307414.1:p.Ala242Thr
ENST00000380909.9:c.724G>A MANE Select ENSP00000370295.4:p.Ala242Thr
NM_001320484.1:c.736G>A NP_001307413.1:p.Ala246Thr
NM_001320484.2:c.736G>A NP_001307413.1:p.Ala246Thr
NM_001320485.1:c.724G>A NP_001307414.1:p.Ala242Thr
NM_001320487.1:c.724G>A NP_001307416.1:p.Ala242Thr
NM_001320487.2:c.724G>A NP_001307416.1:p.Ala242Thr
NM_001320488.1:c.724G>A NP_001307417.1:p.Ala242Thr
NM_001320488.2:c.724G>A NP_001307417.1:p.Ala242Thr
NM_001378762.1:c.724G>A NP_001365691.1:p.Ala242Thr
NM_001378765.1:c.724G>A NP_001365694.1:p.Ala242Thr
NM_025204.2:c.724G>A NP_079480.2:p.Ala242Thr
NM_025204.3:c.724G>A NP_079480.2:p.Ala242Thr
NM_025204.4:c.724G>A NP_079480.2:p.Ala242Thr
NR_135275.1:n.819G>A
NR_135275.2:n.818G>A
ENST00000303434.8:c.724G>A ENSP00000305664.4:p.Ala242Thr
ENST00000380909.8:c.724G>A ENSP00000370295.4:p.Ala242Thr
ENST00000395827.5:c.724G>A ENSP00000379171.1:p.Ala242Thr
ENST00000395829.1:c.724G>A ENSP00000379173.1:p.Ala242Thr
ENST00000463233.1:n.842G>A
ENST00000472677.1:n.983G>A
XM_006724422.2:c.724G>A XP_006724485.1:p.Ala242Thr
XM_006724422.3:c.724G>A XP_006724485.1:p.Ala242Thr
XM_006724423.2:c.724G>A XP_006724486.1:p.Ala242Thr
XM_006724423.3:c.724G>A XP_006724486.1:p.Ala242Thr
XM_006724425.2:c.904G>A XP_006724488.2:p.Ala302Thr
XM_011530712.1:c.916G>A XP_011529014.1:p.Ala306Thr
XM_011530712.2:c.736G>A XP_011529014.2:p.Ala246Thr
XM_011530713.1:c.916G>A XP_011529015.1:p.Ala306Thr
XM_011530713.3:c.736G>A XP_011529015.2:p.Ala246Thr
XM_011530714.1:c.904G>A XP_011529016.1:p.Ala302Thr
XM_011530715.1:c.916G>A XP_011529017.1:p.Ala306Thr
XM_011530715.2:c.736G>A XP_011529017.2:p.Ala246Thr
XM_011530716.1:c.736G>A XP_011529018.1:p.Ala246Thr
XM_011530716.2:c.736G>A XP_011529018.1:p.Ala246Thr
XM_011530717.1:c.736G>A XP_011529019.1:p.Ala246Thr
XM_011530717.2:c.736G>A XP_011529019.1:p.Ala246Thr
XM_011530718.1:c.736G>A XP_011529020.1:p.Ala246Thr
XM_011530718.2:c.736G>A XP_011529020.1:p.Ala246Thr
XM_017028943.1:c.736G>A XP_016884432.1:p.Ala246Thr
XM_017028944.1:c.724G>A XP_016884433.1:p.Ala242Thr
XM_024452272.1:c.736G>A XP_024308040.1:p.Ala246Thr
XM_024452273.1:c.724G>A XP_024308041.1:p.Ala242Thr
XR_001755302.1:n.888G>A
XR_001755303.2:n.866G>A
XR_002958713.1:n.865G>A
XR_430482.2:n.826G>A
XR_938345.1:n.927G>A
XR_938345.2:n.888G>A
XR_938346.1:n.915G>A
XR_938346.3:n.866G>A