Canonical Allele Identifier: CA2673908352
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56859665-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859665T>C , CM000667.2:g.56859665T>C GRCh38
NC_000005.9:g.56155492T>C , CM000667.1:g.56155492T>C GRCh37
NC_000005.8:g.56191249T>C NCBI36
NG_031884.1:g.49593T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.634-50T>C MANE Select ENSP00000382423.3:n.634-50T>C
ENST00000399503.3:c.634-50T>C ENSP00000382423.3:n.634-50T>C
NM_005921.1:c.634-50T>C NP_005912.1:n.634-50T>C
XM_005248519.3:c.256-50T>C XP_005248576.2:n.256-50T>C
XM_011543406.1:c.379-50T>C XP_011541708.1:n.379-50T>C
XM_011543407.1:c.634-50T>C XP_011541709.1:n.634-50T>C
XM_011543408.1:c.634-50T>C XP_011541710.1:n.634-50T>C
XM_017009484.1:c.223-50T>C XP_016864973.1:n.223-50T>C
XM_017009485.1:c.145-50T>C XP_016864974.1:n.145-50T>C
XR_001742068.2:n.665-50T>C
NM_005921.2:c.634-50T>C MANE Select NP_005912.1:n.634-50T>C