Canonical Allele Identifier: CA8293769

Gene: ITGAE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3729542G>A , CM000679.2:g.3729542G>A	GRCh38
NC_000017.10:g.3632836G>A , CM000679.1:g.3632836G>A	GRCh37
NC_000017.9:g.3579585G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002208.5:c.2848C>T MANE Select	NP_002199.3:p.Arg950Trp
ENST00000263087.9:c.2848C>T MANE Select	ENSP00000263087.4:p.Arg950Trp
NM_002208.4:c.2848C>T	NP_002199.3:p.Arg950Trp
ENST00000263087.8:c.2848C>T	ENSP00000263087.4:p.Arg950Trp
ENST00000571185.1:n.406-1374C>T
ENST00000574026.2:c.340-1374C>T
XM_011523823.1:c.2962C>T	XP_011522125.1:p.Arg988Trp
XM_011523824.1:c.2949-1374C>T	XP_011522126.1:n.2949-1374C>T
XM_011523825.1:c.2962C>T	XP_011522127.1:p.Arg988Trp
XM_011523825.3:c.2962C>T	XP_011522127.1:p.Arg988Trp
XM_011523826.1:c.2886-1374C>T	XP_011522128.1:n.2886-1374C>T
XM_011523827.1:c.2800C>T	XP_011522129.1:p.Arg934Trp
XM_011523827.3:c.2800C>T	XP_011522129.1:p.Arg934Trp
XM_011523828.1:c.2787-1374C>T	XP_011522130.1:n.2787-1374C>T
XM_011523828.3:c.2787-1374C>T	XP_011522130.1:n.2787-1374C>T
XM_017024586.1:c.2949-1374C>T	XP_016880075.1:n.2949-1374C>T
XM_024450740.1:c.2962C>T	XP_024306508.1:p.Arg988Trp
XR_934020.1:n.2859-1374C>T