Canonical Allele Identifier: CA5271606
Gene: DOLK HGNC NCBI

Linked Data

dbSNP Id: rs572213550
ExAC: 9:131708373 G / C
gnomAD v2: 9-131708373-G-C
gnomAD v3: 9-128946094-G-C
gnomAD v4: 9-128946094-G-C
MyVariant Identifiers: chr9:g.131708373G>C (hg19) chr9:g.128946094G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946094G>C , CM000671.2:g.128946094G>C GRCh38
NC_000009.11:g.131708373G>C , CM000671.1:g.131708373G>C GRCh37
NC_000009.10:g.130748194G>C NCBI36
NG_017009.1:g.6640C>G , LRG_744:g.6640C>G
NG_033111.1:g.3402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1210C>G MANE Select ENSP00000361667.3:p.Leu404Val
ENST00000372586.3:c.1210C>G ENSP00000361667.3:p.Leu404Val
ENST00000482796.1:c.39-3095G>C ENSP00000417556.2:n.39-3095G>C
NM_014908.3:c.1210C>G , LRG_744t1:c.1210C>G NP_055723.1:p.Leu404Val
NM_014908.4:c.1210C>G MANE Select NP_055723.1:p.Leu404Val
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