Canonical Allele Identifier: CA1353006
Gene: DSTYK HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.205187417C>T
GRCh37 chr1:g.205156545C>T
gnomAD v2:
1:205156545 C / T
gnomAD v3:
1:205187417 C / T
gnomAD v4:
chr1-205187417-C-T
Joint Max Group AF 0.00065742 (AMR)
Genomes Max Group AF 0.00065639 (AMR)
Exomes Max Group AF 0.00056893 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205187417C>T , CM000663.2:g.205187417C>T GRCh38
NC_000001.10:g.205156545C>T , CM000663.1:g.205156545C>T GRCh37
NC_000001.9:g.203423168C>T NCBI36
NG_033904.1:g.29183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367162.8:c.654+1G>A MANE Select ENSP00000356130.3:n.654+1G>A
ENST00000367161.7:c.654+1G>A ENSP00000356129.3:n.654+1G>A
ENST00000367162.7:c.654+1G>A ENSP00000356130.3:n.654+1G>A
NM_015375.2:c.654+1G>A NP_056190.1:n.654+1G>A
NM_199462.2:c.654+1G>A NP_955749.1:n.654+1G>A
XM_011509392.1:c.627+28G>A XP_011507694.1:n.627+28G>A
XM_011509393.1:c.14+1G>A XP_011507695.1:n.14+1G>A
XM_011509394.1:c.28-17585G>A XP_011507696.1:n.28-17585G>A
XM_011509392.2:c.627+28G>A XP_011507694.1:n.627+28G>A
XM_011509393.2:c.14+1G>A XP_011507695.1:n.14+1G>A
XM_011509394.2:c.28-17585G>A XP_011507696.1:n.28-17585G>A
NM_015375.3:c.654+1G>A MANE Select NP_056190.1:n.654+1G>A
NM_199462.3:c.654+1G>A NP_955749.1:n.654+1G>A
Search 100 bp 5'
Search 100 bp 3'