Canonical Allele Identifier: CA119073545

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1030708503
• gnomAD v4: 5-56875447-C-G
• MyVariant Identifiers: chr5:g.56171274C>G (hg19) ; chr5:g.56875447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875447C>G , CM000667.2:g.56875447C>G	GRCh38
NC_000005.9:g.56171274C>G , CM000667.1:g.56171274C>G	GRCh37
NC_000005.8:g.56207031C>G	NCBI36
NG_031884.1:g.65375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+137C>G MANE Select	ENSP00000382423.3:n.1965+137C>G
ENST00000399503.3:c.1965+137C>G	ENSP00000382423.3:n.1965+137C>G
NM_005921.1:c.1965+137C>G	NP_005912.1:n.1965+137C>G
XM_005248519.3:c.1587+137C>G	XP_005248576.2:n.1587+137C>G
XM_011543406.1:c.1710+137C>G	XP_011541708.1:n.1710+137C>G
XM_011543407.1:c.1686+2442C>G	XP_011541709.1:n.1686+2442C>G
XM_011543408.1:c.1965+137C>G	XP_011541710.1:n.1965+137C>G
XM_017009484.1:c.1554+137C>G	XP_016864973.1:n.1554+137C>G
XM_017009485.1:c.1476+137C>G	XP_016864974.1:n.1476+137C>G
XR_001742068.2:n.1996+137C>G
NM_005921.2:c.1965+137C>G MANE Select	NP_005912.1:n.1965+137C>G