Canonical Allele Identifier: CA444391759

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1370432142
• gnomAD v3: 5-56859882-A-C
• gnomAD v4: 5-56859882-A-C
• MyVariant Identifiers: chr5:g.56155709A>C (hg19) ; chr5:g.56859882A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859882A>C , CM000667.2:g.56859882A>C	GRCh38
NC_000005.9:g.56155709A>C , CM000667.1:g.56155709A>C	GRCh37
NC_000005.8:g.56191466A>C	NCBI36
NG_031884.1:g.49810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.801A>C MANE Select	ENSP00000382423.3:p.Pro267=
ENST00000399503.3:c.801A>C	ENSP00000382423.3:p.Pro267=
NM_005921.1:c.801A>C	NP_005912.1:p.Pro267=
XM_005248519.3:c.423A>C	XP_005248576.2:p.Pro141=
XM_011543406.1:c.546A>C	XP_011541708.1:p.Pro182=
XM_011543407.1:c.801A>C	XP_011541709.1:p.Pro267=
XM_011543408.1:c.801A>C	XP_011541710.1:p.Pro267=
XM_017009484.1:c.390A>C	XP_016864973.1:p.Pro130=
XM_017009485.1:c.312A>C	XP_016864974.1:p.Pro104=
XR_001742068.2:n.832A>C
NM_005921.2:c.801A>C MANE Select	NP_005912.1:p.Pro267=