Canonical Allele Identifier: CA359802414

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155589C>G (hg19) ; chr5:g.56859762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859762C>G , CM000667.2:g.56859762C>G	GRCh38
NC_000005.9:g.56155589C>G , CM000667.1:g.56155589C>G	GRCh37
NC_000005.8:g.56191346C>G	NCBI36
NG_031884.1:g.49690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.681C>G MANE Select	ENSP00000382423.3:p.His227Gln
ENST00000399503.3:c.681C>G	ENSP00000382423.3:p.His227Gln
NM_005921.1:c.681C>G	NP_005912.1:p.His227Gln
XM_005248519.3:c.303C>G	XP_005248576.2:p.His101Gln
XM_011543406.1:c.426C>G	XP_011541708.1:p.His142Gln
XM_011543407.1:c.681C>G	XP_011541709.1:p.His227Gln
XM_011543408.1:c.681C>G	XP_011541710.1:p.His227Gln
XM_017009484.1:c.270C>G	XP_016864973.1:p.His90Gln
XM_017009485.1:c.192C>G	XP_016864974.1:p.His64Gln
XR_001742068.2:n.712C>G
NM_005921.2:c.681C>G MANE Select	NP_005912.1:p.His227Gln