Canonical Allele Identifier: CA359786541
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56881947-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881947G>C , CM000667.2:g.56881947G>C GRCh38
NC_000005.9:g.56177774G>C , CM000667.1:g.56177774G>C GRCh37
NC_000005.8:g.56213531G>C NCBI36
NG_031884.1:g.71875G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2747G>C MANE Select ENSP00000382423.3:p.Cys916Ser
ENST00000399503.3:c.2747G>C ENSP00000382423.3:p.Cys916Ser
NM_005921.1:c.2747G>C NP_005912.1:p.Cys916Ser
XM_005248519.3:c.2369G>C XP_005248576.2:p.Cys790Ser
XM_011543406.1:c.2492G>C XP_011541708.1:p.Cys831Ser
XM_011543407.1:c.2468G>C XP_011541709.1:p.Cys823Ser
XM_011543408.1:c.2747G>C XP_011541710.1:p.Cys916Ser
XM_017009484.1:c.2336G>C XP_016864973.1:p.Cys779Ser
XM_017009485.1:c.2258G>C XP_016864974.1:p.Cys753Ser
XR_001742068.2:n.2778G>C
NM_005921.2:c.2747G>C MANE Select NP_005912.1:p.Cys916Ser