Canonical Allele Identifier: CA590200716

Gene: PHF19

Linked Data

• dbSNP Id: rs1198804923
• gnomAD v2: 9-123640345-A-C
• gnomAD v3: 9-120878067-A-C
• gnomAD v4: 9-120878067-A-C
• MyVariant Identifiers: chr9:g.123640345A>C (hg19) ; chr9:g.120878067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120878067A>C , CM000671.2:g.120878067A>C	GRCh38
NC_000009.11:g.123640345A>C , CM000671.1:g.123640345A>C	GRCh37
NC_000009.10:g.122680166A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000616568.5:c.43-3311T>G	ENSP00000483946.1:n.43-3311T>G
ENST00000616568.4:c.43-3311T>G	ENSP00000483946.1:n.43-3311T>G
NM_001286840.1:c.43-3311T>G	NP_001273769.1:n.43-3311T>G
XM_011518511.1:c.43-3311T>G	XP_011516813.1:n.43-3311T>G
XM_011518513.1:c.-346-3311T>G	XP_011516815.1:n.-346-3311T>G
XM_011518515.1:c.43-3311T>G	XP_011516817.1:n.43-3311T>G
XM_011518516.1:c.43-3311T>G	XP_011516818.1:n.43-3311T>G
XR_929758.1:n.64-3311T>G
XR_929759.1:n.64-3311T>G
XM_011518511.2:c.43-3311T>G	XP_011516813.1:n.43-3311T>G
XM_011518515.2:c.43-3311T>G	XP_011516817.1:n.43-3311T>G
XM_011518516.2:c.43-3311T>G	XP_011516818.1:n.43-3311T>G
XM_017014612.2:c.-15-3311T>G	XP_016870101.1:n.-15-3311T>G
XM_017014613.1:c.43-3311T>G	XP_016870102.1:n.43-3311T>G
XM_024447505.1:c.-346-3311T>G	XP_024303273.1:n.-346-3311T>G
XR_929758.3:n.574-3311T>G