Canonical Allele Identifier: CA356637544

Gene: WDR19

Linked Data

• dbSNP Id: rs1203025739
• gnomAD v2: 4-39246008-G-T
• gnomAD v4: 4-39244388-G-T
• MyVariant Identifiers: chr4:g.39246008G>T (hg19) ; chr4:g.39244388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244388G>T , CM000666.2:g.39244388G>T	GRCh38
NC_000004.11:g.39246008G>T , CM000666.1:g.39246008G>T	GRCh37
NC_000004.10:g.38922403G>T	NCBI36
NG_031813.1:g.66985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2562G>T MANE Select	ENSP00000382717.3:p.Lys854Asn
ENST00000399820.7:c.2562G>T	ENSP00000382717.3:p.Lys854Asn
ENST00000506869.5:c.*2143G>T	ENSP00000424319.1:n.*2143G>T
ENST00000512095.5:n.1560G>T
NM_025132.3:c.2562G>T	NP_079408.3:p.Lys854Asn
XM_011513724.1:c.2574G>T	XP_011512026.1:p.Lys858Asn
XM_011513725.1:c.2508G>T	XP_011512027.1:p.Lys836Asn
XM_011513726.1:c.2094G>T	XP_011512028.1:p.Lys698Asn
XM_011513727.1:c.2094G>T	XP_011512029.1:p.Lys698Asn
XM_011513728.1:c.2082G>T	XP_011512030.1:p.Lys694Asn
XM_011513729.1:c.2574G>T	XP_011512031.1:p.Lys858Asn
XR_925155.1:n.2638G>T
NM_001317924.1:c.2082G>T	NP_001304853.1:p.Lys694Asn
XM_011513725.2:c.2508G>T	XP_011512027.1:p.Lys836Asn
XM_011513726.3:c.2094G>T	XP_011512028.1:p.Lys698Asn
XM_017008501.1:c.2082G>T	XP_016863990.1:p.Lys694Asn
XR_001741306.1:n.2638G>T
XR_001741307.1:n.2626G>T
XR_001741308.1:n.2638G>T
XR_001741309.1:n.2626G>T
XR_001741310.1:n.2626G>T
XR_001741311.2:n.2475G>T
NM_025132.4:c.2562G>T MANE Select	NP_079408.3:p.Lys854Asn
NM_001317924.2:c.2082G>T	NP_001304853.1:p.Lys694Asn