Canonical Allele Identifier: CA356634530

Gene: WDR19

Linked Data

• dbSNP Id: rs1727879336
• gnomAD v4: 4-39205708-A-C
• MyVariant Identifiers: chr4:g.39207328A>C (hg19) ; chr4:g.39205708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205708A>C , CM000666.2:g.39205708A>C	GRCh38
NC_000004.11:g.39207328A>C , CM000666.1:g.39207328A>C	GRCh37
NC_000004.10:g.38883723A>C	NCBI36
NG_031813.1:g.28305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.862A>C MANE Select	ENSP00000382717.3:p.Asn288His
ENST00000399820.7:c.862A>C	ENSP00000382717.3:p.Asn288His
ENST00000503697.5:c.*330A>C	ENSP00000423706.1:n.*330A>C
ENST00000506503.1:c.862A>C	ENSP00000423491.1:p.Asn288His
ENST00000506869.5:c.*443A>C	ENSP00000424319.1:n.*443A>C
ENST00000511729.5:n.41-22850A>C
ENST00000512448.1:n.456A>C
NM_025132.3:c.862A>C	NP_079408.3:p.Asn288His
XM_011513724.1:c.862A>C	XP_011512026.1:p.Asn288His
XM_011513725.1:c.796A>C	XP_011512027.1:p.Asn266His
XM_011513726.1:c.382A>C	XP_011512028.1:p.Asn128His
XM_011513727.1:c.382A>C	XP_011512029.1:p.Asn128His
XM_011513728.1:c.382A>C	XP_011512030.1:p.Asn128His
XM_011513729.1:c.862A>C	XP_011512031.1:p.Asn288His
XR_925155.1:n.926A>C
NM_001317924.1:c.382A>C	NP_001304853.1:p.Asn128His
XM_011513725.2:c.796A>C	XP_011512027.1:p.Asn266His
XM_011513726.3:c.382A>C	XP_011512028.1:p.Asn128His
XM_017008501.1:c.382A>C	XP_016863990.1:p.Asn128His
XR_001741306.1:n.926A>C
XR_001741307.1:n.926A>C
XR_001741308.1:n.926A>C
XR_001741309.1:n.926A>C
XR_001741310.1:n.926A>C
XR_001741311.2:n.775A>C
XR_001741312.1:n.926A>C
NM_025132.4:c.862A>C MANE Select	NP_079408.3:p.Asn288His
NM_001317924.2:c.382A>C	NP_001304853.1:p.Asn128His