Canonical Allele Identifier: CA27127115

Gene: DIPK1A

Linked Data

• dbSNP Id: rs980284975
• gnomAD v2: 1-93401751-A-G
• gnomAD v3: 1-92936194-A-G
• gnomAD v4: 1-92936194-A-G
• MyVariant Identifiers: chr1:g.93401751A>G (hg19) ; chr1:g.92936194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92936194A>G , CM000663.2:g.92936194A>G	GRCh38
NC_000001.10:g.93401751A>G , CM000663.1:g.93401751A>G	GRCh37
NC_000001.9:g.93174339A>G	NCBI36
NG_033051.1:g.30329T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370310.5:c.54+25182T>C MANE Select	ENSP00000359333.4:n.54+25182T>C
ENST00000370310.4:c.54+25182T>C	ENSP00000359333.4:n.54+25182T>C
ENST00000613902.4:c.54+25182T>C	ENSP00000484866.1:n.54+25182T>C
ENST00000615519.4:c.54+25182T>C	ENSP00000483279.1:n.54+25182T>C
ENST00000616709.4:c.54+25182T>C	ENSP00000482718.1:n.54+25182T>C
NM_001006605.4:c.54+25182T>C	NP_001006606.2:n.54+25182T>C
NM_001252269.1:c.54+25182T>C	NP_001239198.1:n.54+25182T>C
NM_001252270.1:c.54+25182T>C	NP_001239199.1:n.54+25182T>C
NM_001252273.1:c.54+25182T>C	NP_001239202.1:n.54+25182T>C
NM_001006605.5:c.54+25182T>C MANE Select	NP_001006606.2:n.54+25182T>C
NM_001252269.2:c.54+25182T>C	NP_001239198.1:n.54+25182T>C
NM_001252270.2:c.54+25182T>C	NP_001239199.1:n.54+25182T>C
NM_001252273.2:c.54+25182T>C	NP_001239202.1:n.54+25182T>C