Canonical Allele Identifier: CA444391751

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859870-A-G
• MyVariant Identifiers: chr5:g.56155697A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859870A>G , CM000667.2:g.56859870A>G	GRCh38
NC_000005.9:g.56155697A>G , CM000667.1:g.56155697A>G	GRCh37
NC_000005.8:g.56191454A>G	NCBI36
NG_031884.1:g.49798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.789A>G MANE Select	ENSP00000382423.3:p.Lys263=
ENST00000399503.3:c.789A>G	ENSP00000382423.3:p.Lys263=
NM_005921.1:c.789A>G	NP_005912.1:p.Lys263=
XM_005248519.3:c.411A>G	XP_005248576.2:p.Lys137=
XM_011543406.1:c.534A>G	XP_011541708.1:p.Lys178=
XM_011543407.1:c.789A>G	XP_011541709.1:p.Lys263=
XM_011543408.1:c.789A>G	XP_011541710.1:p.Lys263=
XM_017009484.1:c.378A>G	XP_016864973.1:p.Lys126=
XM_017009485.1:c.300A>G	XP_016864974.1:p.Lys100=
XR_001742068.2:n.820A>G
NM_005921.2:c.789A>G MANE Select	NP_005912.1:p.Lys263=