Canonical Allele Identifier: CA359787698

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882319-A-G
• MyVariant Identifiers: chr5:g.56178146A>G (hg19) ; chr5:g.56882319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882319A>G , CM000667.2:g.56882319A>G	GRCh38
NC_000005.9:g.56178146A>G , CM000667.1:g.56178146A>G	GRCh37
NC_000005.8:g.56213903A>G	NCBI36
NG_031884.1:g.72247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3119A>G MANE Select	ENSP00000382423.3:p.Asp1040Gly
ENST00000399503.3:c.3119A>G	ENSP00000382423.3:p.Asp1040Gly
NM_005921.1:c.3119A>G	NP_005912.1:p.Asp1040Gly
XM_005248519.3:c.2741A>G	XP_005248576.2:p.Asp914Gly
XM_011543406.1:c.2864A>G	XP_011541708.1:p.Asp955Gly
XM_011543407.1:c.2840A>G	XP_011541709.1:p.Asp947Gly
XM_011543408.1:c.3119A>G	XP_011541710.1:p.Asp1040Gly
XM_017009484.1:c.2708A>G	XP_016864973.1:p.Asp903Gly
XM_017009485.1:c.2630A>G	XP_016864974.1:p.Asp877Gly
XR_001742068.2:n.3150A>G
NM_005921.2:c.3119A>G MANE Select	NP_005912.1:p.Asp1040Gly