Canonical Allele Identifier: CA444399189

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881864-T-C
• MyVariant Identifiers: chr5:g.56177691T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881864T>C , CM000667.2:g.56881864T>C	GRCh38
NC_000005.9:g.56177691T>C , CM000667.1:g.56177691T>C	GRCh37
NC_000005.8:g.56213448T>C	NCBI36
NG_031884.1:g.71792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2664T>C MANE Select	ENSP00000382423.3:p.Ser888=
ENST00000399503.3:c.2664T>C	ENSP00000382423.3:p.Ser888=
NM_005921.1:c.2664T>C	NP_005912.1:p.Ser888=
XM_005248519.3:c.2286T>C	XP_005248576.2:p.Ser762=
XM_011543406.1:c.2409T>C	XP_011541708.1:p.Ser803=
XM_011543407.1:c.2385T>C	XP_011541709.1:p.Ser795=
XM_011543408.1:c.2664T>C	XP_011541710.1:p.Ser888=
XM_017009484.1:c.2253T>C	XP_016864973.1:p.Ser751=
XM_017009485.1:c.2175T>C	XP_016864974.1:p.Ser725=
XR_001742068.2:n.2695T>C
NM_005921.2:c.2664T>C MANE Select	NP_005912.1:p.Ser888=