Canonical Allele Identifier: CA16782572
Community Standard Title: NM_001170535.3(ATAD3A):c.634C>T (p.Arg212Cys)
Gene: ATAD3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1520260C>T , CM000663.2:g.1520260C>T GRCh38
NC_000001.10:g.1455640C>T , CM000663.1:g.1455640C>T GRCh37
NC_000001.9:g.1445503C>T NCBI36
NG_053035.1:g.13118C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001170535.3:c.634C>T MANE Select NP_001164006.1:p.Arg212Cys
ENST00000378756.8:c.634C>T MANE Select ENSP00000368031.3:p.Arg212Cys
NM_001170535.1:c.634C>T NP_001164006.1:p.Arg212Cys
NM_001170535.2:c.634C>T NP_001164006.1:p.Arg212Cys
NM_001170536.1:c.397C>T NP_001164007.1:p.Arg133Cys
NM_001170536.2:c.397C>T NP_001164007.1:p.Arg133Cys
NM_001170536.3:c.397C>T NP_001164007.1:p.Arg133Cys
NM_018188.3:c.778C>T NP_060658.3:p.Arg260Cys
NM_018188.4:c.778C>T NP_060658.3:p.Arg260Cys
NM_018188.5:c.778C>T NP_060658.3:p.Arg260Cys
ENST00000339113.8:c.590C>T
ENST00000339113.9:c.598C>T
ENST00000378755.9:c.778C>T ENSP00000368030.5:p.Arg260Cys
ENST00000378756.7:c.634C>T ENSP00000368031.3:p.Arg212Cys
ENST00000429957.1:n.345C>T
ENST00000536055.5:c.397C>T ENSP00000439290.1:p.Arg133Cys
ENST00000536055.6:c.397C>T ENSP00000439290.1:p.Arg133Cys
ENST00000672388.1:n.1041C>T
XM_024448098.1:c.634C>T XP_024303866.1:p.Arg212Cys
XR_001737282.1:n.760C>T
XR_002956997.1:n.760C>T