Canonical Allele Identifier: CA359786332
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs768354073
gnomAD v2: 5-56177699-A-G
gnomAD v4: 5-56881872-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881872A>G , CM000667.2:g.56881872A>G GRCh38
NC_000005.9:g.56177699A>G , CM000667.1:g.56177699A>G GRCh37
NC_000005.8:g.56213456A>G NCBI36
NG_031884.1:g.71800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2672A>G MANE Select ENSP00000382423.3:p.Asn891Ser
ENST00000399503.3:c.2672A>G ENSP00000382423.3:p.Asn891Ser
NM_005921.1:c.2672A>G NP_005912.1:p.Asn891Ser
XM_005248519.3:c.2294A>G XP_005248576.2:p.Asn765Ser
XM_011543406.1:c.2417A>G XP_011541708.1:p.Asn806Ser
XM_011543407.1:c.2393A>G XP_011541709.1:p.Asn798Ser
XM_011543408.1:c.2672A>G XP_011541710.1:p.Asn891Ser
XM_017009484.1:c.2261A>G XP_016864973.1:p.Asn754Ser
XM_017009485.1:c.2183A>G XP_016864974.1:p.Asn728Ser
XR_001742068.2:n.2703A>G
NM_005921.2:c.2672A>G MANE Select NP_005912.1:p.Asn891Ser