Canonical Allele Identifier: CA359802603

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859857-G-T
• MyVariant Identifiers: chr5:g.56155684G>T (hg19) ; chr5:g.56859857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859857G>T , CM000667.2:g.56859857G>T	GRCh38
NC_000005.9:g.56155684G>T , CM000667.1:g.56155684G>T	GRCh37
NC_000005.8:g.56191441G>T	NCBI36
NG_031884.1:g.49785G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.776G>T MANE Select	ENSP00000382423.3:p.Gly259Val
ENST00000399503.3:c.776G>T	ENSP00000382423.3:p.Gly259Val
NM_005921.1:c.776G>T	NP_005912.1:p.Gly259Val
XM_005248519.3:c.398G>T	XP_005248576.2:p.Gly133Val
XM_011543406.1:c.521G>T	XP_011541708.1:p.Gly174Val
XM_011543407.1:c.776G>T	XP_011541709.1:p.Gly259Val
XM_011543408.1:c.776G>T	XP_011541710.1:p.Gly259Val
XM_017009484.1:c.365G>T	XP_016864973.1:p.Gly122Val
XM_017009485.1:c.287G>T	XP_016864974.1:p.Gly96Val
XR_001742068.2:n.807G>T
NM_005921.2:c.776G>T MANE Select	NP_005912.1:p.Gly259Val