Canonical Allele Identifier: CA359791376
Community Standard Title: NM_005921.2(MAP3K1):c.4390-2A>C
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56893529A>C , CM000667.2:g.56893529A>C GRCh38
NC_000005.9:g.56189356A>C , CM000667.1:g.56189356A>C GRCh37
NC_000005.8:g.56225113A>C NCBI36
NG_031884.1:g.83457A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005921.2:c.4390-2A>C MANE Select NP_005912.1:n.4390-2A>C
ENST00000399503.4:c.4390-2A>C MANE Select ENSP00000382423.3:n.4390-2A>C
NM_005921.1:c.4390-2A>C NP_005912.1:n.4390-2A>C
ENST00000399503.3:c.4390-2A>C ENSP00000382423.3:n.4390-2A>C
ENST00000469188.1:n.1092-2A>C
XM_005248519.3:c.4012-2A>C XP_005248576.2:n.4012-2A>C
XM_011543406.1:c.4135-2A>C XP_011541708.1:n.4135-2A>C
XM_011543407.1:c.4111-2A>C XP_011541709.1:n.4111-2A>C
XM_017009484.1:c.3979-2A>C XP_016864973.1:n.3979-2A>C
XM_017009485.1:c.3901-2A>C XP_016864974.1:n.3901-2A>C
XR_001742068.2:n.4278-2A>C