Canonical Allele Identifier: CA119078928
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs771847139
gnomAD v3: 5-56881460-C-T
gnomAD v4: 5-56881460-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881460C>T , CM000667.2:g.56881460C>T GRCh38
NC_000005.9:g.56177287C>T , CM000667.1:g.56177287C>T GRCh37
NC_000005.8:g.56213044C>T NCBI36
NG_031884.1:g.71388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.2370-110C>T MANE Select ENSP00000382423.3:n.2370-110C>T
ENST00000399503.3:c.2370-110C>T ENSP00000382423.3:n.2370-110C>T
NM_005921.1:c.2370-110C>T NP_005912.1:n.2370-110C>T
XM_005248519.3:c.1992-110C>T XP_005248576.2:n.1992-110C>T
XM_011543406.1:c.2115-110C>T XP_011541708.1:n.2115-110C>T
XM_011543407.1:c.2091-110C>T XP_011541709.1:n.2091-110C>T
XM_011543408.1:c.2370-110C>T XP_011541710.1:n.2370-110C>T
XM_017009484.1:c.1959-110C>T XP_016864973.1:n.1959-110C>T
XM_017009485.1:c.1881-110C>T XP_016864974.1:n.1881-110C>T
XR_001742068.2:n.2401-110C>T
NM_005921.2:c.2370-110C>T MANE Select NP_005912.1:n.2370-110C>T