Canonical Allele Identifier: CA444391466

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859669-C-G
• MyVariant Identifiers: chr5:g.56155496C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859669C>G , CM000667.2:g.56859669C>G	GRCh38
NC_000005.9:g.56155496C>G , CM000667.1:g.56155496C>G	GRCh37
NC_000005.8:g.56191253C>G	NCBI36
NG_031884.1:g.49597C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.634-46C>G MANE Select	ENSP00000382423.3:n.634-46C>G
ENST00000399503.3:c.634-46C>G	ENSP00000382423.3:n.634-46C>G
NM_005921.1:c.634-46C>G	NP_005912.1:n.634-46C>G
XM_005248519.3:c.256-46C>G	XP_005248576.2:n.256-46C>G
XM_011543406.1:c.379-46C>G	XP_011541708.1:n.379-46C>G
XM_011543407.1:c.634-46C>G	XP_011541709.1:n.634-46C>G
XM_011543408.1:c.634-46C>G	XP_011541710.1:n.634-46C>G
XM_017009484.1:c.223-46C>G	XP_016864973.1:n.223-46C>G
XM_017009485.1:c.145-46C>G	XP_016864974.1:n.145-46C>G
XR_001742068.2:n.665-46C>G
NM_005921.2:c.634-46C>G MANE Select	NP_005912.1:n.634-46C>G