Canonical Allele Identifier: CA359802566

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155666C>A (hg19) ; chr5:g.56859839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859839C>A , CM000667.2:g.56859839C>A	GRCh38
NC_000005.9:g.56155666C>A , CM000667.1:g.56155666C>A	GRCh37
NC_000005.8:g.56191423C>A	NCBI36
NG_031884.1:g.49767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.758C>A MANE Select	ENSP00000382423.3:p.Pro253His
ENST00000399503.3:c.758C>A	ENSP00000382423.3:p.Pro253His
NM_005921.1:c.758C>A	NP_005912.1:p.Pro253His
XM_005248519.3:c.380C>A	XP_005248576.2:p.Pro127His
XM_011543406.1:c.503C>A	XP_011541708.1:p.Pro168His
XM_011543407.1:c.758C>A	XP_011541709.1:p.Pro253His
XM_011543408.1:c.758C>A	XP_011541710.1:p.Pro253His
XM_017009484.1:c.347C>A	XP_016864973.1:p.Pro116His
XM_017009485.1:c.269C>A	XP_016864974.1:p.Pro90His
XR_001742068.2:n.789C>A
NM_005921.2:c.758C>A MANE Select	NP_005912.1:p.Pro253His