Canonical Allele Identifier: CA444391768

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859889-A-C
• MyVariant Identifiers: chr5:g.56155716A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859889A>C , CM000667.2:g.56859889A>C	GRCh38
NC_000005.9:g.56155716A>C , CM000667.1:g.56155716A>C	GRCh37
NC_000005.8:g.56191473A>C	NCBI36
NG_031884.1:g.49817A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.808A>C MANE Select	ENSP00000382423.3:p.Arg270=
ENST00000399503.3:c.808A>C	ENSP00000382423.3:p.Arg270=
NM_005921.1:c.808A>C	NP_005912.1:p.Arg270=
XM_005248519.3:c.430A>C	XP_005248576.2:p.Arg144=
XM_011543406.1:c.553A>C	XP_011541708.1:p.Arg185=
XM_011543407.1:c.808A>C	XP_011541709.1:p.Arg270=
XM_011543408.1:c.808A>C	XP_011541710.1:p.Arg270=
XM_017009484.1:c.397A>C	XP_016864973.1:p.Arg133=
XM_017009485.1:c.319A>C	XP_016864974.1:p.Arg107=
XR_001742068.2:n.839A>C
NM_005921.2:c.808A>C MANE Select	NP_005912.1:p.Arg270=