Canonical Allele Identifier: CA359802559

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155662T>G (hg19) ; chr5:g.56859835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859835T>G , CM000667.2:g.56859835T>G	GRCh38
NC_000005.9:g.56155662T>G , CM000667.1:g.56155662T>G	GRCh37
NC_000005.8:g.56191419T>G	NCBI36
NG_031884.1:g.49763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.754T>G MANE Select	ENSP00000382423.3:p.Ser252Ala
ENST00000399503.3:c.754T>G	ENSP00000382423.3:p.Ser252Ala
NM_005921.1:c.754T>G	NP_005912.1:p.Ser252Ala
XM_005248519.3:c.376T>G	XP_005248576.2:p.Ser126Ala
XM_011543406.1:c.499T>G	XP_011541708.1:p.Ser167Ala
XM_011543407.1:c.754T>G	XP_011541709.1:p.Ser252Ala
XM_011543408.1:c.754T>G	XP_011541710.1:p.Ser252Ala
XM_017009484.1:c.343T>G	XP_016864973.1:p.Ser115Ala
XM_017009485.1:c.265T>G	XP_016864974.1:p.Ser89Ala
XR_001742068.2:n.785T>G
NM_005921.2:c.754T>G MANE Select	NP_005912.1:p.Ser252Ala