Canonical Allele Identifier: CA119073449

Gene: MAP3K1

Linked Data

• dbSNP Id: rs751654051
• gnomAD v2: 5-56171164-T-A
• gnomAD v3: 5-56875337-T-A
• gnomAD v4: 5-56875337-T-A
• MyVariant Identifiers: chr5:g.56171164T>A (hg19) ; chr5:g.56875337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875337T>A , CM000667.2:g.56875337T>A	GRCh38
NC_000005.9:g.56171164T>A , CM000667.1:g.56171164T>A	GRCh37
NC_000005.8:g.56206921T>A	NCBI36
NG_031884.1:g.65265T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+27T>A MANE Select	ENSP00000382423.3:n.1965+27T>A
ENST00000399503.3:c.1965+27T>A	ENSP00000382423.3:n.1965+27T>A
NM_005921.1:c.1965+27T>A	NP_005912.1:n.1965+27T>A
XM_005248519.3:c.1587+27T>A	XP_005248576.2:n.1587+27T>A
XM_011543406.1:c.1710+27T>A	XP_011541708.1:n.1710+27T>A
XM_011543407.1:c.1686+2332T>A	XP_011541709.1:n.1686+2332T>A
XM_011543408.1:c.1965+27T>A	XP_011541710.1:n.1965+27T>A
XM_017009484.1:c.1554+27T>A	XP_016864973.1:n.1554+27T>A
XM_017009485.1:c.1476+27T>A	XP_016864974.1:n.1476+27T>A
XR_001742068.2:n.1996+27T>A
NM_005921.2:c.1965+27T>A MANE Select	NP_005912.1:n.1965+27T>A