Canonical Allele Identifier: CA395558300
Community Standard Title: NM_002209.3(ITGAL):c.101G>C (p.Arg34Pro)
Gene: ITGAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30474235G>C , CM000678.2:g.30474235G>C GRCh38
NC_000016.9:g.30485556G>C , CM000678.1:g.30485556G>C GRCh37
NC_000016.8:g.30393057G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002209.3:c.101G>C MANE Select NP_002200.2:p.Arg34Pro
ENST00000356798.11:c.101G>C MANE Select ENSP00000349252.5:p.Arg34Pro
NM_001114380.1:c.101G>C NP_001107852.1:p.Arg34Pro
NM_001114380.2:c.101G>C NP_001107852.1:p.Arg34Pro
NM_002209.2:c.101G>C NP_002200.2:p.Arg34Pro
ENST00000356798.10:c.101G>C ENSP00000349252.5:p.Arg34Pro
ENST00000358164.9:c.101G>C ENSP00000350886.5:p.Arg34Pro
ENST00000433423.2:c.101G>C ENSP00000409377.2:p.Arg34Pro
ENST00000562652.1:c.*59G>C ENSP00000456521.1:n.*59G>C
ENST00000562857.5:c.101G>C ENSP00000454342.1:p.Arg34Pro
ENST00000564118.1:c.101G>C ENSP00000456888.1:p.Arg34Pro
ENST00000565348.5:n.193G>C
ENST00000565864.5:c.101G>C ENSP00000454908.1:p.Arg34Pro
ENST00000568926.5:c.101G>C ENSP00000457785.1:p.Arg34Pro
ENST00000569570.5:n.336G>C
ENST00000569725.1:c.-188G>C ENSP00000461006.1:n.-188G>C
ENST00000677830.1:c.101G>C ENSP00000503623.1:p.Arg34Pro
ENST00000678203.1:c.220G>C ENSP00000504379.1:p.Gly74Arg
XM_005255313.1:c.101G>C XP_005255370.1:p.Arg34Pro
XM_006721044.1:c.101G>C XP_006721107.1:p.Arg34Pro
XM_011545849.1:c.-205G>C XP_011544151.1:n.-205G>C
XM_024450262.1:c.-188G>C XP_024306030.1:n.-188G>C
XR_950794.1:n.197G>C