Canonical Allele Identifier: CA444399244

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1561199660
• gnomAD v4: 5-56881918-C-A
• MyVariant Identifiers: chr5:g.56177745C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881918C>A , CM000667.2:g.56881918C>A	GRCh38
NC_000005.9:g.56177745C>A , CM000667.1:g.56177745C>A	GRCh37
NC_000005.8:g.56213502C>A	NCBI36
NG_031884.1:g.71846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2718C>A MANE Select	ENSP00000382423.3:p.Val906=
ENST00000399503.3:c.2718C>A	ENSP00000382423.3:p.Val906=
NM_005921.1:c.2718C>A	NP_005912.1:p.Val906=
XM_005248519.3:c.2340C>A	XP_005248576.2:p.Val780=
XM_011543406.1:c.2463C>A	XP_011541708.1:p.Val821=
XM_011543407.1:c.2439C>A	XP_011541709.1:p.Val813=
XM_011543408.1:c.2718C>A	XP_011541710.1:p.Val906=
XM_017009484.1:c.2307C>A	XP_016864973.1:p.Val769=
XM_017009485.1:c.2229C>A	XP_016864974.1:p.Val743=
XR_001742068.2:n.2749C>A
NM_005921.2:c.2718C>A MANE Select	NP_005912.1:p.Val906=