Canonical Allele Identifier: CA359802529

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2655469
• ClinVar RCV Id: RCV003429641
• gnomAD v4: 5-56859820-G-A
• MyVariant Identifiers: chr5:g.56155647G>A (hg19) ; chr5:g.56859820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859820G>A , CM000667.2:g.56859820G>A	GRCh38
NC_000005.9:g.56155647G>A , CM000667.1:g.56155647G>A	GRCh37
NC_000005.8:g.56191404G>A	NCBI36
NG_031884.1:g.49748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.739G>A MANE Select	ENSP00000382423.3:p.Gly247Ser
ENST00000399503.3:c.739G>A	ENSP00000382423.3:p.Gly247Ser
NM_005921.1:c.739G>A	NP_005912.1:p.Gly247Ser
XM_005248519.3:c.361G>A	XP_005248576.2:p.Gly121Ser
XM_011543406.1:c.484G>A	XP_011541708.1:p.Gly162Ser
XM_011543407.1:c.739G>A	XP_011541709.1:p.Gly247Ser
XM_011543408.1:c.739G>A	XP_011541710.1:p.Gly247Ser
XM_017009484.1:c.328G>A	XP_016864973.1:p.Gly110Ser
XM_017009485.1:c.250G>A	XP_016864974.1:p.Gly84Ser
XR_001742068.2:n.770G>A
NM_005921.2:c.739G>A MANE Select	NP_005912.1:p.Gly247Ser