Canonical Allele Identifier: CA2673909932
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56881459-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881459G>A , CM000667.2:g.56881459G>A GRCh38
NC_000005.9:g.56177286G>A , CM000667.1:g.56177286G>A GRCh37
NC_000005.8:g.56213043G>A NCBI36
NG_031884.1:g.71387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2370-111G>A MANE Select ENSP00000382423.3:n.2370-111G>A
ENST00000399503.3:c.2370-111G>A ENSP00000382423.3:n.2370-111G>A
NM_005921.1:c.2370-111G>A NP_005912.1:n.2370-111G>A
XM_005248519.3:c.1992-111G>A XP_005248576.2:n.1992-111G>A
XM_011543406.1:c.2115-111G>A XP_011541708.1:n.2115-111G>A
XM_011543407.1:c.2091-111G>A XP_011541709.1:n.2091-111G>A
XM_011543408.1:c.2370-111G>A XP_011541710.1:n.2370-111G>A
XM_017009484.1:c.1959-111G>A XP_016864973.1:n.1959-111G>A
XM_017009485.1:c.1881-111G>A XP_016864974.1:n.1881-111G>A
XR_001742068.2:n.2401-111G>A
NM_005921.2:c.2370-111G>A MANE Select NP_005912.1:n.2370-111G>A