Canonical Allele Identifier: CA356634051

Gene: WDR19

Linked Data

• dbSNP Id: rs1328322728
• gnomAD v2: 4-39206861-T-C
• MyVariant Identifiers: chr4:g.39206861T>C (hg19) ; chr4:g.39205241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205241T>C , CM000666.2:g.39205241T>C	GRCh38
NC_000004.11:g.39206861T>C , CM000666.1:g.39206861T>C	GRCh37
NC_000004.10:g.38883256T>C	NCBI36
NG_031813.1:g.27838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.691T>C MANE Select	ENSP00000382717.3:p.Phe231Leu
ENST00000399820.7:c.691T>C	ENSP00000382717.3:p.Phe231Leu
ENST00000503697.5:c.*159T>C	ENSP00000423706.1:n.*159T>C
ENST00000505055.5:c.*272T>C	ENSP00000425949.1:n.*272T>C
ENST00000506503.1:c.691T>C	ENSP00000423491.1:p.Phe231Leu
ENST00000506869.5:c.*272T>C	ENSP00000424319.1:n.*272T>C
ENST00000511729.5:n.40+22678T>C
ENST00000512448.1:n.285T>C
NM_025132.3:c.691T>C	NP_079408.3:p.Phe231Leu
XM_011513724.1:c.691T>C	XP_011512026.1:p.Phe231Leu
XM_011513725.1:c.625T>C	XP_011512027.1:p.Phe209Leu
XM_011513726.1:c.211T>C	XP_011512028.1:p.Phe71Leu
XM_011513727.1:c.211T>C	XP_011512029.1:p.Phe71Leu
XM_011513728.1:c.211T>C	XP_011512030.1:p.Phe71Leu
XM_011513729.1:c.691T>C	XP_011512031.1:p.Phe231Leu
XR_925155.1:n.755T>C
NM_001317924.1:c.211T>C	NP_001304853.1:p.Phe71Leu
XM_011513725.2:c.625T>C	XP_011512027.1:p.Phe209Leu
XM_011513726.3:c.211T>C	XP_011512028.1:p.Phe71Leu
XM_017008501.1:c.211T>C	XP_016863990.1:p.Phe71Leu
XR_001741306.1:n.755T>C
XR_001741307.1:n.755T>C
XR_001741308.1:n.755T>C
XR_001741309.1:n.755T>C
XR_001741310.1:n.755T>C
XR_001741311.2:n.604T>C
XR_001741312.1:n.755T>C
NM_025132.4:c.691T>C MANE Select	NP_079408.3:p.Phe231Leu
NM_001317924.2:c.211T>C	NP_001304853.1:p.Phe71Leu