Canonical Allele Identifier: CA812365417
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1277710735
gnomAD v3: 5-56859968-T-G
gnomAD v4: 5-56859968-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859968T>G , CM000667.2:g.56859968T>G GRCh38
NC_000005.9:g.56155795T>G , CM000667.1:g.56155795T>G GRCh37
NC_000005.8:g.56191552T>G NCBI36
NG_031884.1:g.49896T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.834+53T>G MANE Select ENSP00000382423.3:n.834+53T>G
ENST00000399503.3:c.834+53T>G ENSP00000382423.3:n.834+53T>G
NM_005921.1:c.834+53T>G NP_005912.1:n.834+53T>G
XM_005248519.3:c.456+53T>G XP_005248576.2:n.456+53T>G
XM_011543406.1:c.579+53T>G XP_011541708.1:n.579+53T>G
XM_011543407.1:c.834+53T>G XP_011541709.1:n.834+53T>G
XM_011543408.1:c.834+53T>G XP_011541710.1:n.834+53T>G
XM_017009484.1:c.423+53T>G XP_016864973.1:n.423+53T>G
XM_017009485.1:c.345+53T>G XP_016864974.1:n.345+53T>G
XR_001742068.2:n.865+53T>G
NM_005921.2:c.834+53T>G MANE Select NP_005912.1:n.834+53T>G