Canonical Allele Identifier: CA3273133

Gene: MAP3K1

Linked Data

• dbSNP Id: rs376311031
• ExAC: 5:56178219 A / G
• gnomAD v2: 5-56178219-A-G
• gnomAD v3: 5-56882392-A-G
• gnomAD v4: 5-56882392-A-G
• MyVariant Identifiers: chr5:g.56178219A>G (hg19) ; chr5:g.56882392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882392A>G , CM000667.2:g.56882392A>G	GRCh38
NC_000005.9:g.56178219A>G , CM000667.1:g.56178219A>G	GRCh37
NC_000005.8:g.56213976A>G	NCBI36
NG_031884.1:g.72320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3192A>G MANE Select	ENSP00000382423.3:p.Arg1064=
ENST00000399503.3:c.3192A>G	ENSP00000382423.3:p.Arg1064=
NM_005921.1:c.3192A>G	NP_005912.1:p.Arg1064=
XM_005248519.3:c.2814A>G	XP_005248576.2:p.Arg938=
XM_011543406.1:c.2937A>G	XP_011541708.1:p.Arg979=
XM_011543407.1:c.2913A>G	XP_011541709.1:p.Arg971=
XM_011543408.1:c.3192A>G	XP_011541710.1:p.Arg1064=
XM_017009484.1:c.2781A>G	XP_016864973.1:p.Arg927=
XM_017009485.1:c.2703A>G	XP_016864974.1:p.Arg901=
XR_001742068.2:n.3223A>G
NM_005921.2:c.3192A>G MANE Select	NP_005912.1:p.Arg1064=