Canonical Allele Identifier: CA119520078

Gene: MAP3K1

Linked Data

• dbSNP Id: rs376486169
• gnomAD v2: 5-56155601-G-A
• gnomAD v3: 5-56859774-G-A
• gnomAD v4: 5-56859774-G-A
• MyVariant Identifiers: chr5:g.56155601G>A (hg19) ; chr5:g.56859774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859774G>A , CM000667.2:g.56859774G>A	GRCh38
NC_000005.9:g.56155601G>A , CM000667.1:g.56155601G>A	GRCh37
NC_000005.8:g.56191358G>A	NCBI36
NG_031884.1:g.49702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.693G>A MANE Select	ENSP00000382423.3:p.Glu231=
ENST00000399503.3:c.693G>A	ENSP00000382423.3:p.Glu231=
NM_005921.1:c.693G>A	NP_005912.1:p.Glu231=
XM_005248519.3:c.315G>A	XP_005248576.2:p.Glu105=
XM_011543406.1:c.438G>A	XP_011541708.1:p.Glu146=
XM_011543407.1:c.693G>A	XP_011541709.1:p.Glu231=
XM_011543408.1:c.693G>A	XP_011541710.1:p.Glu231=
XM_017009484.1:c.282G>A	XP_016864973.1:p.Glu94=
XM_017009485.1:c.204G>A	XP_016864974.1:p.Glu68=
XR_001742068.2:n.724G>A
NM_005921.2:c.693G>A MANE Select	NP_005912.1:p.Glu231=