Canonical Allele Identifier: CA359787631

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1160803088
• gnomAD v2: 5-56178117-C-G
• MyVariant Identifiers: chr5:g.56178117C>G (hg19) ; chr5:g.56882290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882290C>G , CM000667.2:g.56882290C>G	GRCh38
NC_000005.9:g.56178117C>G , CM000667.1:g.56178117C>G	GRCh37
NC_000005.8:g.56213874C>G	NCBI36
NG_031884.1:g.72218C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.3090C>G MANE Select	ENSP00000382423.3:p.His1030Gln
ENST00000399503.3:c.3090C>G	ENSP00000382423.3:p.His1030Gln
NM_005921.1:c.3090C>G	NP_005912.1:p.His1030Gln
XM_005248519.3:c.2712C>G	XP_005248576.2:p.His904Gln
XM_011543406.1:c.2835C>G	XP_011541708.1:p.His945Gln
XM_011543407.1:c.2811C>G	XP_011541709.1:p.His937Gln
XM_011543408.1:c.3090C>G	XP_011541710.1:p.His1030Gln
XM_017009484.1:c.2679C>G	XP_016864973.1:p.His893Gln
XM_017009485.1:c.2601C>G	XP_016864974.1:p.His867Gln
XR_001742068.2:n.3121C>G
NM_005921.2:c.3090C>G MANE Select	NP_005912.1:p.His1030Gln