Canonical Allele Identifier: CA2673908392
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56859996-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859996C>T , CM000667.2:g.56859996C>T GRCh38
NC_000005.9:g.56155823C>T , CM000667.1:g.56155823C>T GRCh37
NC_000005.8:g.56191580C>T NCBI36
NG_031884.1:g.49924C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.834+81C>T MANE Select ENSP00000382423.3:n.834+81C>T
ENST00000399503.3:c.834+81C>T ENSP00000382423.3:n.834+81C>T
NM_005921.1:c.834+81C>T NP_005912.1:n.834+81C>T
XM_005248519.3:c.456+81C>T XP_005248576.2:n.456+81C>T
XM_011543406.1:c.579+81C>T XP_011541708.1:n.579+81C>T
XM_011543407.1:c.834+81C>T XP_011541709.1:n.834+81C>T
XM_011543408.1:c.834+81C>T XP_011541710.1:n.834+81C>T
XM_017009484.1:c.423+81C>T XP_016864973.1:n.423+81C>T
XM_017009485.1:c.345+81C>T XP_016864974.1:n.345+81C>T
XR_001742068.2:n.865+81C>T
NM_005921.2:c.834+81C>T MANE Select NP_005912.1:n.834+81C>T