Canonical Allele Identifier: CA8258037
Community Standard Title: NM_001481.3(GAS8):c.925-2A>C
Gene: GAS8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.90037760A>C , CM000678.2:g.90037760A>C GRCh38
NC_000016.9:g.90104168A>C , CM000678.1:g.90104168A>C GRCh37
NC_000016.8:g.88631669A>C NCBI36
NG_046598.1:g.23132A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001481.3:c.925-2A>C MANE Select NP_001472.1:n.925-2A>C
ENST00000268699.9:c.925-2A>C MANE Select ENSP00000268699.4:n.925-2A>C
NM_001286205.1:c.676-2A>C NP_001273134.1:n.676-2A>C
NM_001286205.2:c.676-2A>C NP_001273134.1:n.676-2A>C
NM_001286208.1:c.349-2A>C NP_001273137.1:n.349-2A>C
NM_001286208.2:c.349-2A>C NP_001273137.1:n.349-2A>C
NM_001286209.1:c.850-2A>C NP_001273138.1:n.850-2A>C
NM_001286209.2:c.850-2A>C NP_001273138.1:n.850-2A>C
NM_001481.2:c.925-2A>C NP_001472.1:n.925-2A>C
ENST00000268699.8:c.925-2A>C ENSP00000268699.4:n.925-2A>C
ENST00000536122.5:c.850-2A>C ENSP00000440977.1:n.850-2A>C
ENST00000536122.7:c.850-2A>C ENSP00000440977.1:n.850-2A>C
ENST00000540721.5:n.896-2A>C
ENST00000566266.5:c.*885-2A>C ENSP00000454343.1:n.*885-2A>C
ENST00000569399.1:n.560-2A>C
ENST00000569558.5:n.1728-2A>C
ENST00000620723.4:c.676-2A>C ENSP00000482877.1:n.676-2A>C
XM_005256304.3:c.850-2A>C XP_005256361.1:n.850-2A>C
XM_005256309.3:c.349-2A>C XP_005256366.1:n.349-2A>C
XM_005256309.4:c.349-2A>C XP_005256366.1:n.349-2A>C
XM_006721175.2:c.676-2A>C XP_006721238.1:n.676-2A>C
XM_006721175.3:c.676-2A>C XP_006721238.1:n.676-2A>C
XM_011522990.1:c.676-2A>C XP_011521292.1:n.676-2A>C
XM_011522990.2:c.676-2A>C XP_011521292.1:n.676-2A>C
XM_011522991.1:c.676-2A>C XP_011521293.1:n.676-2A>C
XM_011522992.1:c.676-2A>C XP_011521294.1:n.676-2A>C
XM_011522992.2:c.676-2A>C XP_011521294.1:n.676-2A>C
XM_017023122.1:c.676-2A>C XP_016878611.1:n.676-2A>C
XM_017023123.1:c.676-2A>C XP_016878612.1:n.676-2A>C
XM_017023124.1:c.349-2A>C XP_016878613.1:n.349-2A>C
XM_017023125.1:c.349-2A>C XP_016878614.1:n.349-2A>C
XM_024450228.1:c.850-2A>C XP_024305996.1:n.850-2A>C