Canonical Allele Identifier: CA412813340

Gene: ARAF

Linked Data

• dbSNP Id: rs1470345765
• gnomAD v4: X-47566695-C-T
• MyVariant Identifiers: chrX:g.47426094C>T (hg19) ; chrX:g.47566695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47566695C>T , CM000685.2:g.47566695C>T	GRCh38
NC_000023.10:g.47426094C>T , CM000685.1:g.47426094C>T	GRCh37
NC_000023.9:g.47311038C>T	NCBI36
NG_016339.1:g.10579C>T
NG_016339.2:g.10579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377045.9:c.614C>T MANE Select	ENSP00000366244.4:p.Ala205Val
ENST00000290277.10:c.623C>T	ENSP00000290277.7:p.Ala208Val
ENST00000377045.8:c.614C>T	ENSP00000366244.4:p.Ala205Val
NM_001256196.1:c.623C>T	NP_001243125.1:p.Ala208Val
NM_001654.4:c.614C>T	NP_001645.1:p.Ala205Val
XM_006724529.1:c.629C>T	XP_006724592.1:p.Ala210Val
XM_011543906.1:c.629C>T	XP_011542208.1:p.Ala210Val
XM_011543907.1:c.629C>T	XP_011542209.1:p.Ala210Val
XM_011543908.1:c.614C>T	XP_011542210.1:p.Ala205Val
XM_011543909.1:c.-44C>T	XP_011542211.1:n.-44C>T
XM_006724529.3:c.629C>T	XP_006724592.1:p.Ala210Val
XM_011543906.3:c.629C>T	XP_011542208.1:p.Ala210Val
XM_011543908.3:c.614C>T	XP_011542210.1:p.Ala205Val
XM_011543909.3:c.-44C>T	XP_011542211.1:n.-44C>T
NM_001654.5:c.614C>T MANE Select	NP_001645.1:p.Ala205Val
NM_001256196.2:c.623C>T	NP_001243125.1:p.Ala208Val