Canonical Allele Identifier: CA119080214

Gene: MAP3K1

Linked Data

• dbSNP Id: rs939345393
• gnomAD v3: 5-56882408-A-G
• gnomAD v4: 5-56882408-A-G
• MyVariant Identifiers: chr5:g.56178235A>G (hg19) ; chr5:g.56882408A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882408A>G , CM000667.2:g.56882408A>G	GRCh38
NC_000005.9:g.56178235A>G , CM000667.1:g.56178235A>G	GRCh37
NC_000005.8:g.56213992A>G	NCBI36
NG_031884.1:g.72336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3208A>G MANE Select	ENSP00000382423.3:p.Thr1070Ala
ENST00000399503.3:c.3208A>G	ENSP00000382423.3:p.Thr1070Ala
NM_005921.1:c.3208A>G	NP_005912.1:p.Thr1070Ala
XM_005248519.3:c.2830A>G	XP_005248576.2:p.Thr944Ala
XM_011543406.1:c.2953A>G	XP_011541708.1:p.Thr985Ala
XM_011543407.1:c.2929A>G	XP_011541709.1:p.Thr977Ala
XM_011543408.1:c.3208A>G	XP_011541710.1:p.Thr1070Ala
XM_017009484.1:c.2797A>G	XP_016864973.1:p.Thr933Ala
XM_017009485.1:c.2719A>G	XP_016864974.1:p.Thr907Ala
XR_001742068.2:n.3239A>G
NM_005921.2:c.3208A>G MANE Select	NP_005912.1:p.Thr1070Ala