Canonical Allele Identifier: CA2694738251

Gene: PHF6

Linked Data

• gnomAD v4: X-134413713-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413713T>C , CM000685.2:g.134413713T>C	GRCh38
NC_000023.10:g.133547743T>C , CM000685.1:g.133547743T>C	GRCh37
NC_000023.9:g.133375409T>C	NCBI36
NG_008886.1:g.45402T>C , LRG_629:g.45402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*504+56T>C	ENSP00000510193.1:n.*504+56T>C
ENST00000687496.1:c.483+56T>C	ENSP00000509551.1:n.483+56T>C
ENST00000688598.1:c.483+56T>C	ENSP00000510410.1:n.483+56T>C
ENST00000691812.1:c.585+56T>C	ENSP00000510211.1:n.585+56T>C
ENST00000693759.1:c.*197+56T>C	ENSP00000509518.1:n.*197+56T>C
ENST00000370803.8:c.585+56T>C MANE Select	ENSP00000359839.4:n.585+56T>C
ENST00000332070.7:c.585+56T>C	ENSP00000329097.3:n.585+56T>C
ENST00000370799.5:c.588+56T>C	ENSP00000359835.1:n.588+56T>C
ENST00000370800.4:c.588+56T>C	ENSP00000359836.4:n.588+56T>C
ENST00000370803.7:c.585+56T>C	ENSP00000359839.3:n.585+56T>C
ENST00000625464.2:c.588+56T>C	ENSP00000487420.1:n.588+56T>C
NM_001015877.1:c.585+56T>C , LRG_629t1:c.585+56T>C	NP_001015877.1:n.585+56T>C
NM_032335.3:c.588+56T>C , LRG_629t2:c.588+56T>C	NP_115711.2:n.588+56T>C
NM_032458.2:c.585+56T>C	NP_115834.1:n.585+56T>C
NM_001015877.2:c.585+56T>C MANE Select	NP_001015877.1:n.585+56T>C
NM_032458.3:c.585+56T>C	NP_115834.1:n.585+56T>C