Canonical Allele Identifier: CA27127120

Gene: DIPK1A

Linked Data

• dbSNP Id: rs992736030
• gnomAD v2: 1-93401814-T-C
• gnomAD v3: 1-92936257-T-C
• gnomAD v4: 1-92936257-T-C
• MyVariant Identifiers: chr1:g.93401814T>C (hg19) ; chr1:g.92936257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92936257T>C , CM000663.2:g.92936257T>C	GRCh38
NC_000001.10:g.93401814T>C , CM000663.1:g.93401814T>C	GRCh37
NC_000001.9:g.93174402T>C	NCBI36
NG_033051.1:g.30266A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370310.5:c.54+25119A>G MANE Select	ENSP00000359333.4:n.54+25119A>G
ENST00000370310.4:c.54+25119A>G	ENSP00000359333.4:n.54+25119A>G
ENST00000613902.4:c.54+25119A>G	ENSP00000484866.1:n.54+25119A>G
ENST00000615519.4:c.54+25119A>G	ENSP00000483279.1:n.54+25119A>G
ENST00000616709.4:c.54+25119A>G	ENSP00000482718.1:n.54+25119A>G
NM_001006605.4:c.54+25119A>G	NP_001006606.2:n.54+25119A>G
NM_001252269.1:c.54+25119A>G	NP_001239198.1:n.54+25119A>G
NM_001252270.1:c.54+25119A>G	NP_001239199.1:n.54+25119A>G
NM_001252273.1:c.54+25119A>G	NP_001239202.1:n.54+25119A>G
NM_001006605.5:c.54+25119A>G MANE Select	NP_001006606.2:n.54+25119A>G
NM_001252269.2:c.54+25119A>G	NP_001239198.1:n.54+25119A>G
NM_001252270.2:c.54+25119A>G	NP_001239199.1:n.54+25119A>G
NM_001252273.2:c.54+25119A>G	NP_001239202.1:n.54+25119A>G