Canonical Allele Identifier: CA359802601
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1351771523
gnomAD v3: 5-56859857-G-A
gnomAD v4: 5-56859857-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.776G>A MANE Select ENSP00000382423.3:p.Gly259Asp
ENST00000399503.3:c.776G>A ENSP00000382423.3:p.Gly259Asp
NM_005921.1:c.776G>A NP_005912.1:p.Gly259Asp
XM_005248519.3:c.398G>A XP_005248576.2:p.Gly133Asp
XM_011543406.1:c.521G>A XP_011541708.1:p.Gly174Asp
XM_011543407.1:c.776G>A XP_011541709.1:p.Gly259Asp
XM_011543408.1:c.776G>A XP_011541710.1:p.Gly259Asp
XM_017009484.1:c.365G>A XP_016864973.1:p.Gly122Asp
XM_017009485.1:c.287G>A XP_016864974.1:p.Gly96Asp
XR_001742068.2:n.807G>A
NM_005921.2:c.776G>A MANE Select NP_005912.1:p.Gly259Asp