Canonical Allele Identifier: CA2673908397
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56860007-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56860007T>C , CM000667.2:g.56860007T>C GRCh38
NC_000005.9:g.56155834T>C , CM000667.1:g.56155834T>C GRCh37
NC_000005.8:g.56191591T>C NCBI36
NG_031884.1:g.49935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.834+92T>C MANE Select ENSP00000382423.3:n.834+92T>C
ENST00000399503.3:c.834+92T>C ENSP00000382423.3:n.834+92T>C
NM_005921.1:c.834+92T>C NP_005912.1:n.834+92T>C
XM_005248519.3:c.456+92T>C XP_005248576.2:n.456+92T>C
XM_011543406.1:c.579+92T>C XP_011541708.1:n.579+92T>C
XM_011543407.1:c.834+92T>C XP_011541709.1:n.834+92T>C
XM_011543408.1:c.834+92T>C XP_011541710.1:n.834+92T>C
XM_017009484.1:c.423+92T>C XP_016864973.1:n.423+92T>C
XM_017009485.1:c.345+92T>C XP_016864974.1:n.345+92T>C
XR_001742068.2:n.865+92T>C
NM_005921.2:c.834+92T>C MANE Select NP_005912.1:n.834+92T>C