Canonical Allele Identifier: CA3273123

Gene: MAP3K1

Linked Data

• dbSNP Id: rs766945040
• ExAC: 5:56178155 C / A
• gnomAD v2: 5-56178155-C-A
• gnomAD v4: 5-56882328-C-A
• MyVariant Identifiers: chr5:g.56178155C>A (hg19) ; chr5:g.56882328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882328C>A , CM000667.2:g.56882328C>A	GRCh38
NC_000005.9:g.56178155C>A , CM000667.1:g.56178155C>A	GRCh37
NC_000005.8:g.56213912C>A	NCBI36
NG_031884.1:g.72256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3128C>A MANE Select	ENSP00000382423.3:p.Ser1043Tyr
ENST00000399503.3:c.3128C>A	ENSP00000382423.3:p.Ser1043Tyr
NM_005921.1:c.3128C>A	NP_005912.1:p.Ser1043Tyr
XM_005248519.3:c.2750C>A	XP_005248576.2:p.Ser917Tyr
XM_011543406.1:c.2873C>A	XP_011541708.1:p.Ser958Tyr
XM_011543407.1:c.2849C>A	XP_011541709.1:p.Ser950Tyr
XM_011543408.1:c.3128C>A	XP_011541710.1:p.Ser1043Tyr
XM_017009484.1:c.2717C>A	XP_016864973.1:p.Ser906Tyr
XM_017009485.1:c.2639C>A	XP_016864974.1:p.Ser880Tyr
XR_001742068.2:n.3159C>A
NM_005921.2:c.3128C>A MANE Select	NP_005912.1:p.Ser1043Tyr