Canonical Allele Identifier: CA2673909454
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56875406-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56875406C>A , CM000667.2:g.56875406C>A GRCh38
NC_000005.9:g.56171233C>A , CM000667.1:g.56171233C>A GRCh37
NC_000005.8:g.56206990C>A NCBI36
NG_031884.1:g.65334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.1965+96C>A MANE Select ENSP00000382423.3:n.1965+96C>A
ENST00000399503.3:c.1965+96C>A ENSP00000382423.3:n.1965+96C>A
NM_005921.1:c.1965+96C>A NP_005912.1:n.1965+96C>A
XM_005248519.3:c.1587+96C>A XP_005248576.2:n.1587+96C>A
XM_011543406.1:c.1710+96C>A XP_011541708.1:n.1710+96C>A
XM_011543407.1:c.1686+2401C>A XP_011541709.1:n.1686+2401C>A
XM_011543408.1:c.1965+96C>A XP_011541710.1:n.1965+96C>A
XM_017009484.1:c.1554+96C>A XP_016864973.1:n.1554+96C>A
XM_017009485.1:c.1476+96C>A XP_016864974.1:n.1476+96C>A
XR_001742068.2:n.1996+96C>A
NM_005921.2:c.1965+96C>A MANE Select NP_005912.1:n.1965+96C>A