Canonical Allele Identifier: CA359787713

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945843
• MyVariant Identifiers: chr5:g.56178152T>A (hg19) ; chr5:g.56882325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882325T>A , CM000667.2:g.56882325T>A	GRCh38
NC_000005.9:g.56178152T>A , CM000667.1:g.56178152T>A	GRCh37
NC_000005.8:g.56213909T>A	NCBI36
NG_031884.1:g.72253T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3125T>A MANE Select	ENSP00000382423.3:p.Leu1042His
ENST00000399503.3:c.3125T>A	ENSP00000382423.3:p.Leu1042His
NM_005921.1:c.3125T>A	NP_005912.1:p.Leu1042His
XM_005248519.3:c.2747T>A	XP_005248576.2:p.Leu916His
XM_011543406.1:c.2870T>A	XP_011541708.1:p.Leu957His
XM_011543407.1:c.2846T>A	XP_011541709.1:p.Leu949His
XM_011543408.1:c.3125T>A	XP_011541710.1:p.Leu1042His
XM_017009484.1:c.2714T>A	XP_016864973.1:p.Leu905His
XM_017009485.1:c.2636T>A	XP_016864974.1:p.Leu879His
XR_001742068.2:n.3156T>A
NM_005921.2:c.3125T>A MANE Select	NP_005912.1:p.Leu1042His