Canonical Allele Identifier: CA27090379
Community Standard Title: NM_005263.5(GFI1):c.299-191T>C
Gene: GFI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92481279A>G , CM000663.2:g.92481279A>G GRCh38
NC_000001.10:g.92946836A>G , CM000663.1:g.92946836A>G GRCh37
NC_000001.9:g.92719424A>G NCBI36
NG_007874.1:g.10598T>C , LRG_63:g.10598T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005263.5:c.299-191T>C MANE Select NP_005254.2:n.299-191T>C
ENST00000294702.6:c.299-191T>C MANE Select ENSP00000294702.5:n.299-191T>C
NM_001127215.1:c.299-191T>C NP_001120687.1:n.299-191T>C
NM_001127215.2:c.299-191T>C NP_001120687.1:n.299-191T>C
NM_001127215.3:c.299-191T>C NP_001120687.1:n.299-191T>C
NM_001127216.1:c.299-191T>C NP_001120688.1:n.299-191T>C
NM_001127216.2:c.299-191T>C NP_001120688.1:n.299-191T>C
NM_001127216.3:c.299-191T>C NP_001120688.1:n.299-191T>C
NM_005263.3:c.299-191T>C , LRG_63t1:c.299-191T>C NP_005254.2:n.299-191T>C
NM_005263.4:c.299-191T>C NP_005254.2:n.299-191T>C
ENST00000294702.5:c.299-191T>C ENSP00000294702.5:n.299-191T>C
ENST00000370332.5:c.299-191T>C ENSP00000359357.1:n.299-191T>C
ENST00000427103.5:c.299-191T>C ENSP00000399719.1:n.299-191T>C
ENST00000427103.6:c.299-191T>C ENSP00000399719.1:n.299-191T>C
XM_005270749.3:c.299-191T>C XP_005270806.1:n.299-191T>C
XM_011541245.1:c.299-191T>C XP_011539547.1:n.299-191T>C
XM_011541245.2:c.299-191T>C XP_011539547.1:n.299-191T>C
XM_011541246.1:c.299-191T>C XP_011539548.1:n.299-191T>C
XM_011541246.2:c.299-191T>C XP_011539548.1:n.299-191T>C