Canonical Allele Identifier: CA1902592759
Community Standard Title: NM_052997.3(ANKRD30A):c.3810A= (p.Ala1270=)
Gene: ANKRD30A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.37219522A= , CM000672.2:g.37219522A= GRCh38
NC_000010.10:g.37508450A= , CM000672.1:g.37508450A= GRCh37
NC_000010.9:g.37548456A= NCBI36
NG_051556.1:g.98781A=

Transcript Alleles

HGVS Amino-acid Change
NM_052997.3:c.3810A= MANE Select NP_443723.3:p.Ala1270=
ENST00000361713.2:c.3810A= MANE Select ENSP00000354432.2:p.Ala1270=
NM_052997.2:c.3642A= NP_443723.2:p.Ala1214=
ENST00000361713.1:c.3642A= ENSP00000354432.1:p.Ala1214=
ENST00000374660.5:c.3999A= ENSP00000363792.1:p.Ala1333=
ENST00000374660.6:c.4167A= ENSP00000363792.2:p.Ala1389=
ENST00000374660.7:c.4167A= ENSP00000363792.2:p.Ala1389=
ENST00000602533.5:c.3642A= ENSP00000473551.1:p.Ala1214=
ENST00000602533.6:c.3810A= ENSP00000473551.2:p.Ala1270=
ENST00000602533.7:c.3810A= ENSP00000473551.2:p.Ala1270=
ENST00000611781.4:c.3810A= ENSP00000477963.1:p.Ala1270=
ENST00000696674.1:c.543A= ENSP00000512798.1:p.Ala181=
XM_011519757.1:c.4251A= XP_011518059.1:p.Ala1417=
XM_011519757.3:c.4251A= XP_011518059.1:p.Ala1417=
XM_011519758.2:c.*488A= XP_011518060.1:n.*488A=
XM_017016883.2:c.1971A= XP_016872372.1:p.Ala657=
XR_001747257.1:n.4285A=
XR_002957039.1:n.4285A=
XR_002957040.1:n.4285A=
XR_002957041.1:n.4285A=
XR_002957042.1:n.4285A=
XR_002957043.1:n.4285A=
XR_002957044.1:n.4285A=
XR_002957045.1:n.4285A=
XR_002957046.1:n.4285A=
XR_002957047.1:n.4285A=
XR_002957048.1:n.4285A=
XR_930524.1:n.4297A=
XR_930524.3:n.4285A=