Canonical Allele Identifier: CA10521247

Gene: PHF6

Linked Data

• dbSNP Id: rs199592517
• ExAC: X:133547963 T / C
• gnomAD v2: X-133547963-T-C
• gnomAD v3: X-134413933-T-C
• gnomAD v4: X-134413933-T-C
• MyVariant Identifiers: chrX:g.133547963T>C (hg19) ; chrX:g.134413933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413933T>C , CM000685.2:g.134413933T>C	GRCh38
NC_000023.10:g.133547963T>C , CM000685.1:g.133547963T>C	GRCh37
NC_000023.9:g.133375629T>C	NCBI36
NG_008886.1:g.45622T>C , LRG_629:g.45622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*615T>C	ENSP00000510193.1:n.*615T>C
ENST00000687496.1:c.594T>C	ENSP00000509551.1:p.Asn198=
ENST00000688598.1:c.594T>C	ENSP00000510410.1:p.Asn198=
ENST00000691812.1:c.696T>C	ENSP00000510211.1:p.Asn232=
ENST00000693759.1:c.*308T>C	ENSP00000509518.1:n.*308T>C
ENST00000370803.8:c.696T>C MANE Select	ENSP00000359839.4:p.Asn232=
ENST00000332070.7:c.696T>C	ENSP00000329097.3:p.Asn232=
ENST00000370799.5:c.699T>C	ENSP00000359835.1:p.Asn233=
ENST00000370800.4:c.699T>C	ENSP00000359836.4:p.Asn233=
ENST00000370803.7:c.696T>C	ENSP00000359839.3:p.Asn232=
ENST00000625464.2:c.699T>C	ENSP00000487420.1:p.Asn233=
NM_001015877.1:c.696T>C , LRG_629t1:c.696T>C	NP_001015877.1:p.Asn232=
NM_032335.3:c.699T>C , LRG_629t2:c.699T>C	NP_115711.2:p.Asn233=
NM_032458.2:c.696T>C	NP_115834.1:p.Asn232=
NM_001015877.2:c.696T>C MANE Select	NP_001015877.1:p.Asn232=
NM_032458.3:c.696T>C	NP_115834.1:p.Asn232=