Canonical Allele Identifier: CA119520075

Gene: MAP3K1

Linked Data

• dbSNP Id: rs886494812
• gnomAD v2: 5-56155597-C-G
• gnomAD v3: 5-56859770-C-G
• gnomAD v4: 5-56859770-C-G
• MyVariant Identifiers: chr5:g.56155597C>G (hg19) ; chr5:g.56859770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859770C>G , CM000667.2:g.56859770C>G	GRCh38
NC_000005.9:g.56155597C>G , CM000667.1:g.56155597C>G	GRCh37
NC_000005.8:g.56191354C>G	NCBI36
NG_031884.1:g.49698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.689C>G MANE Select	ENSP00000382423.3:p.Ala230Gly
ENST00000399503.3:c.689C>G	ENSP00000382423.3:p.Ala230Gly
NM_005921.1:c.689C>G	NP_005912.1:p.Ala230Gly
XM_005248519.3:c.311C>G	XP_005248576.2:p.Ala104Gly
XM_011543406.1:c.434C>G	XP_011541708.1:p.Ala145Gly
XM_011543407.1:c.689C>G	XP_011541709.1:p.Ala230Gly
XM_011543408.1:c.689C>G	XP_011541710.1:p.Ala230Gly
XM_017009484.1:c.278C>G	XP_016864973.1:p.Ala93Gly
XM_017009485.1:c.200C>G	XP_016864974.1:p.Ala67Gly
XR_001742068.2:n.720C>G
NM_005921.2:c.689C>G MANE Select	NP_005912.1:p.Ala230Gly