Canonical Allele Identifier: CA359786548

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881950-C-A
• MyVariant Identifiers: chr5:g.56177777C>A (hg19) ; chr5:g.56881950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881950C>A , CM000667.2:g.56881950C>A	GRCh38
NC_000005.9:g.56177777C>A , CM000667.1:g.56177777C>A	GRCh37
NC_000005.8:g.56213534C>A	NCBI36
NG_031884.1:g.71878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2750C>A MANE Select	ENSP00000382423.3:p.Ala917Asp
ENST00000399503.3:c.2750C>A	ENSP00000382423.3:p.Ala917Asp
NM_005921.1:c.2750C>A	NP_005912.1:p.Ala917Asp
XM_005248519.3:c.2372C>A	XP_005248576.2:p.Ala791Asp
XM_011543406.1:c.2495C>A	XP_011541708.1:p.Ala832Asp
XM_011543407.1:c.2471C>A	XP_011541709.1:p.Ala824Asp
XM_011543408.1:c.2750C>A	XP_011541710.1:p.Ala917Asp
XM_017009484.1:c.2339C>A	XP_016864973.1:p.Ala780Asp
XM_017009485.1:c.2261C>A	XP_016864974.1:p.Ala754Asp
XR_001742068.2:n.2781C>A
NM_005921.2:c.2750C>A MANE Select	NP_005912.1:p.Ala917Asp