Canonical Allele Identifier: CA444391732

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1235976491
• gnomAD v2: 5-56155676-C-A
• gnomAD v3: 5-56859849-C-A
• gnomAD v4: 5-56859849-C-A
• MyVariant Identifiers: chr5:g.56155676C>A (hg19) ; chr5:g.56859849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859849C>A , CM000667.2:g.56859849C>A	GRCh38
NC_000005.9:g.56155676C>A , CM000667.1:g.56155676C>A	GRCh37
NC_000005.8:g.56191433C>A	NCBI36
NG_031884.1:g.49777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.768C>A MANE Select	ENSP00000382423.3:p.Ser256=
ENST00000399503.3:c.768C>A	ENSP00000382423.3:p.Ser256=
NM_005921.1:c.768C>A	NP_005912.1:p.Ser256=
XM_005248519.3:c.390C>A	XP_005248576.2:p.Ser130=
XM_011543406.1:c.513C>A	XP_011541708.1:p.Ser171=
XM_011543407.1:c.768C>A	XP_011541709.1:p.Ser256=
XM_011543408.1:c.768C>A	XP_011541710.1:p.Ser256=
XM_017009484.1:c.357C>A	XP_016864973.1:p.Ser119=
XM_017009485.1:c.279C>A	XP_016864974.1:p.Ser93=
XR_001742068.2:n.799C>A
NM_005921.2:c.768C>A MANE Select	NP_005912.1:p.Ser256=