Canonical Allele Identifier: CA2673909913
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56881419-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881419A>C , CM000667.2:g.56881419A>C GRCh38
NC_000005.9:g.56177246A>C , CM000667.1:g.56177246A>C GRCh37
NC_000005.8:g.56213003A>C NCBI36
NG_031884.1:g.71347A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.2369+147A>C MANE Select ENSP00000382423.3:n.2369+147A>C
ENST00000399503.3:c.2369+147A>C ENSP00000382423.3:n.2369+147A>C
NM_005921.1:c.2369+147A>C NP_005912.1:n.2369+147A>C
XM_005248519.3:c.1991+147A>C XP_005248576.2:n.1991+147A>C
XM_011543406.1:c.2114+147A>C XP_011541708.1:n.2114+147A>C
XM_011543407.1:c.2090+147A>C XP_011541709.1:n.2090+147A>C
XM_011543408.1:c.2369+147A>C XP_011541710.1:n.2369+147A>C
XM_017009484.1:c.1958+147A>C XP_016864973.1:n.1958+147A>C
XM_017009485.1:c.1880+147A>C XP_016864974.1:n.1880+147A>C
XR_001742068.2:n.2400+147A>C
NM_005921.2:c.2369+147A>C MANE Select NP_005912.1:n.2369+147A>C