Canonical Allele Identifier: CA1352818

Gene: DSTYK

Linked Data

• ClinVar Variation Id: 1538631
• ClinVar RCV Id: RCV002169422
• dbSNP Id: rs567099854
• ExAC: 1:205132148 C / T
• gnomAD v2: 1-205132148-C-T
• gnomAD v3: 1-205163020-C-T
• gnomAD v4: 1-205163020-C-T
• MyVariant Identifiers: chr1:g.205132148C>T (hg19) ; chr1:g.205163020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205163020C>T , CM000663.2:g.205163020C>T	GRCh38
NC_000001.10:g.205132148C>T , CM000663.1:g.205132148C>T	GRCh37
NC_000001.9:g.203398771C>T	NCBI36
NG_033904.1:g.53580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367162.8:c.1558-14G>A MANE Select	ENSP00000356130.3:n.1558-14G>A
ENST00000367161.7:c.1558-14G>A	ENSP00000356129.3:n.1558-14G>A
ENST00000367162.7:c.1558-14G>A	ENSP00000356130.3:n.1558-14G>A
ENST00000615388.1:c.-60-14G>A	ENSP00000478016.1:n.-60-14G>A
NM_015375.2:c.1558-14G>A	NP_056190.1:n.1558-14G>A
NM_199462.2:c.1558-14G>A	NP_955749.1:n.1558-14G>A
XM_011509392.1:c.1531-14G>A	XP_011507694.1:n.1531-14G>A
XM_011509393.1:c.973-14G>A	XP_011507695.1:n.973-14G>A
XM_011509394.1:c.931-14G>A	XP_011507696.1:n.931-14G>A
XM_011509392.2:c.1531-14G>A	XP_011507694.1:n.1531-14G>A
XM_011509393.2:c.973-14G>A	XP_011507695.1:n.973-14G>A
XM_011509394.2:c.931-14G>A	XP_011507696.1:n.931-14G>A
NM_015375.3:c.1558-14G>A MANE Select	NP_056190.1:n.1558-14G>A
NM_199462.3:c.1558-14G>A	NP_955749.1:n.1558-14G>A