Canonical Allele Identifier: CA413249992

Gene: PHF8

Linked Data

• dbSNP Id: rs1201431283
• gnomAD v3: X-54042770-T-C
• gnomAD v4: X-54042770-T-C
• MyVariant Identifiers: chrX:g.54069203T>C (hg19) ; chrX:g.54042770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54042770T>C , CM000685.2:g.54042770T>C	GRCh38
NC_000023.10:g.54069203T>C , CM000685.1:g.54069203T>C	GRCh37
NC_000023.9:g.54085928T>C	NCBI36
NG_021309.1:g.7367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-42A>G	ENSP00000510424.1:n.-42A>G
ENST00000687764.1:c.-42A>G	ENSP00000509967.1:n.-42A>G
ENST00000338154.11:c.-42A>G MANE Select	ENSP00000338868.6:n.-42A>G
ENST00000322659.12:c.-42A>G	ENSP00000319473.8:n.-42A>G
ENST00000338154.10:c.-42A>G	ENSP00000338868.6:n.-42A>G
ENST00000338946.10:c.-42A>G	ENSP00000340051.6:n.-42A>G
ENST00000357988.9:c.67A>G	ENSP00000350676.5:p.Thr23Ala
ENST00000415025.5:c.-42A>G	ENSP00000404117.1:n.-42A>G
ENST00000425862.5:c.-42A>G	ENSP00000408113.1:n.-42A>G
ENST00000433120.5:c.-42A>G	ENSP00000410100.1:n.-42A>G
ENST00000437224.5:c.-42A>G	ENSP00000398995.1:n.-42A>G
ENST00000445025.1:c.-42A>G	ENSP00000416546.1:n.-42A>G
ENST00000453905.5:c.67A>G	ENSP00000405897.1:p.Thr23Ala
NM_001184896.1:c.67A>G	NP_001171825.1:p.Thr23Ala
NM_001184897.1:c.-42A>G	NP_001171826.1:n.-42A>G
NM_001184898.1:c.-42A>G	NP_001171827.1:n.-42A>G
NM_015107.2:c.-42A>G	NP_055922.1:n.-42A>G
XM_005261996.1:c.67A>G	XP_005262053.1:p.Thr23Ala
XM_005261997.2:c.-42A>G	XP_005262054.1:n.-42A>G
XM_005261999.1:c.-42A>G	XP_005262056.1:n.-42A>G
XM_005262000.1:c.67A>G	XP_005262057.1:p.Thr23Ala
XM_006724585.1:c.67A>G	XP_006724648.1:p.Thr23Ala
XM_011530778.1:c.67A>G	XP_011529080.1:p.Thr23Ala
XM_005261997.4:c.-42A>G	XP_005262054.1:n.-42A>G
XM_017029361.2:c.-42A>G	XP_016884850.1:n.-42A>G
XM_017029362.2:c.-42A>G	XP_016884851.1:n.-42A>G
NM_001184898.2:c.-42A>G	NP_001171827.1:n.-42A>G
NM_015107.3:c.-42A>G MANE Select	NP_055922.1:n.-42A>G
NM_001184897.2:c.-42A>G	NP_001171826.1:n.-42A>G