Canonical Allele Identifier: CA338457

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517414C>T , CM000671.2:g.34517414C>T	GRCh38
NC_000009.11:g.34517412C>T , CM000671.1:g.34517412C>T	GRCh37
NC_000009.10:g.34507412C>T	NCBI36
NG_008127.1:g.63602C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1948C>T MANE Select	NP_036276.1:p.Arg650Cys
ENST00000242317.9:c.1948C>T MANE Select	ENSP00000242317.4:p.Arg650Cys
NM_001281428.1:c.1960C>T	NP_001268357.1:p.Arg654Cys
NM_001281428.2:c.1960C>T	NP_001268357.1:p.Arg654Cys
NM_012144.3:c.1948C>T	NP_036276.1:p.Arg650Cys
ENST00000242317.8:c.1948C>T	ENSP00000242317.4:p.Arg650Cys
ENST00000442556.1:c.329+2675C>T
ENST00000470169.5:c.736C>T
ENST00000485580.1:n.524C>T
ENST00000614641.4:c.1960C>T	ENSP00000480538.1:p.Arg654Cys
XM_006716758.2:c.1417C>T	XP_006716821.1:p.Arg473Cys
XM_006716758.3:c.1417C>T	XP_006716821.1:p.Arg473Cys
XM_011517848.1:c.1702C>T	XP_011516150.1:p.Arg568Cys
XM_011517848.2:c.1702C>T	XP_011516150.1:p.Arg568Cys
XM_017014625.2:c.1690C>T	XP_016870114.1:p.Arg564Cys
XR_002956774.1:n.2051C>T