Canonical Allele Identifier: CA119078958

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1043248785
• gnomAD v3: 5-56881516-A-G
• gnomAD v4: 5-56881516-A-G
• MyVariant Identifiers: chr5:g.56177343A>G (hg19) ; chr5:g.56881516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881516A>G , CM000667.2:g.56881516A>G	GRCh38
NC_000005.9:g.56177343A>G , CM000667.1:g.56177343A>G	GRCh37
NC_000005.8:g.56213100A>G	NCBI36
NG_031884.1:g.71444A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2370-54A>G MANE Select	ENSP00000382423.3:n.2370-54A>G
ENST00000399503.3:c.2370-54A>G	ENSP00000382423.3:n.2370-54A>G
NM_005921.1:c.2370-54A>G	NP_005912.1:n.2370-54A>G
XM_005248519.3:c.1992-54A>G	XP_005248576.2:n.1992-54A>G
XM_011543406.1:c.2115-54A>G	XP_011541708.1:n.2115-54A>G
XM_011543407.1:c.2091-54A>G	XP_011541709.1:n.2091-54A>G
XM_011543408.1:c.2370-54A>G	XP_011541710.1:n.2370-54A>G
XM_017009484.1:c.1959-54A>G	XP_016864973.1:n.1959-54A>G
XM_017009485.1:c.1881-54A>G	XP_016864974.1:n.1881-54A>G
XR_001742068.2:n.2401-54A>G
NM_005921.2:c.2370-54A>G MANE Select	NP_005912.1:n.2370-54A>G