Canonical Allele Identifier: CA359802539

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859826-C-A
• MyVariant Identifiers: chr5:g.56155653C>A (hg19) ; chr5:g.56859826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859826C>A , CM000667.2:g.56859826C>A	GRCh38
NC_000005.9:g.56155653C>A , CM000667.1:g.56155653C>A	GRCh37
NC_000005.8:g.56191410C>A	NCBI36
NG_031884.1:g.49754C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.745C>A MANE Select	ENSP00000382423.3:p.Arg249Ser
ENST00000399503.3:c.745C>A	ENSP00000382423.3:p.Arg249Ser
NM_005921.1:c.745C>A	NP_005912.1:p.Arg249Ser
XM_005248519.3:c.367C>A	XP_005248576.2:p.Arg123Ser
XM_011543406.1:c.490C>A	XP_011541708.1:p.Arg164Ser
XM_011543407.1:c.745C>A	XP_011541709.1:p.Arg249Ser
XM_011543408.1:c.745C>A	XP_011541710.1:p.Arg249Ser
XM_017009484.1:c.334C>A	XP_016864973.1:p.Arg112Ser
XM_017009485.1:c.256C>A	XP_016864974.1:p.Arg86Ser
XR_001742068.2:n.776C>A
NM_005921.2:c.745C>A MANE Select	NP_005912.1:p.Arg249Ser