Canonical Allele Identifier: CA444399887

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1249295320
• gnomAD v2: 5-56178171-G-A
• gnomAD v4: 5-56882344-G-A
• MyVariant Identifiers: chr5:g.56178171G>A (hg19) ; chr5:g.56882344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882344G>A , CM000667.2:g.56882344G>A	GRCh38
NC_000005.9:g.56178171G>A , CM000667.1:g.56178171G>A	GRCh37
NC_000005.8:g.56213928G>A	NCBI36
NG_031884.1:g.72272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3144G>A MANE Select	ENSP00000382423.3:p.Gln1048=
ENST00000399503.3:c.3144G>A	ENSP00000382423.3:p.Gln1048=
NM_005921.1:c.3144G>A	NP_005912.1:p.Gln1048=
XM_005248519.3:c.2766G>A	XP_005248576.2:p.Gln922=
XM_011543406.1:c.2889G>A	XP_011541708.1:p.Gln963=
XM_011543407.1:c.2865G>A	XP_011541709.1:p.Gln955=
XM_011543408.1:c.3144G>A	XP_011541710.1:p.Gln1048=
XM_017009484.1:c.2733G>A	XP_016864973.1:p.Gln911=
XM_017009485.1:c.2655G>A	XP_016864974.1:p.Gln885=
XR_001742068.2:n.3175G>A
NM_005921.2:c.3144G>A MANE Select	NP_005912.1:p.Gln1048=