Canonical Allele Identifier: CA357387484
Community Standard Title: NM_025074.7(FRAS1):c.5218-1G>T
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78438569G>T , CM000666.2:g.78438569G>T GRCh38
NC_000004.11:g.79359723G>T , CM000666.1:g.79359723G>T GRCh37
NC_000004.10:g.79578747G>T NCBI36
NG_015812.1:g.386000G>T
NG_015812.2:g.386000G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.5218-1G>T MANE Select NP_079350.5:n.5218-1G>T
ENST00000512123.4:c.5218-1G>T MANE Select ENSP00000422834.2:n.5218-1G>T
NM_001166133.1:c.5218-1G>T NP_001159605.1:n.5218-1G>T
NM_001166133.2:c.5218-1G>T NP_001159605.1:n.5218-1G>T
NM_025074.6:c.5218-1G>T NP_079350.5:n.5218-1G>T
ENST00000264899.10:c.845-5534G>T ENSP00000264899.7:n.845-5534G>T
ENST00000325942.10:c.5218-1G>T ENSP00000326330.6:n.5218-1G>T
ENST00000325942.11:c.5218-1G>T ENSP00000326330.6:n.5218-1G>T
ENST00000510944.3:c.566-1G>T
ENST00000512123.3:c.5218-1G>T ENSP00000422834.2:n.5218-1G>T
ENST00000682513.1:c.5218-1G>T ENSP00000508201.1:n.5218-1G>T
ENST00000684159.1:c.5218-1G>T ENSP00000506875.1:n.5218-1G>T
XM_006714314.1:c.5212-1G>T XP_006714377.1:n.5212-1G>T
XM_006714316.1:c.5218-1G>T XP_006714379.1:n.5218-1G>T
XM_006714316.3:c.5218-1G>T XP_006714379.1:n.5218-1G>T
XM_011532270.1:c.2917-1G>T XP_011530572.1:n.2917-1G>T
XM_011532271.1:c.106-1G>T XP_011530573.1:n.106-1G>T