Canonical Allele Identifier: CA359787696

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945787
• MyVariant Identifiers: chr5:g.56178145G>C (hg19) ; chr5:g.56882318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882318G>C , CM000667.2:g.56882318G>C	GRCh38
NC_000005.9:g.56178145G>C , CM000667.1:g.56178145G>C	GRCh37
NC_000005.8:g.56213902G>C	NCBI36
NG_031884.1:g.72246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3118G>C MANE Select	ENSP00000382423.3:p.Asp1040His
ENST00000399503.3:c.3118G>C	ENSP00000382423.3:p.Asp1040His
NM_005921.1:c.3118G>C	NP_005912.1:p.Asp1040His
XM_005248519.3:c.2740G>C	XP_005248576.2:p.Asp914His
XM_011543406.1:c.2863G>C	XP_011541708.1:p.Asp955His
XM_011543407.1:c.2839G>C	XP_011541709.1:p.Asp947His
XM_011543408.1:c.3118G>C	XP_011541710.1:p.Asp1040His
XM_017009484.1:c.2707G>C	XP_016864973.1:p.Asp903His
XM_017009485.1:c.2629G>C	XP_016864974.1:p.Asp877His
XR_001742068.2:n.3149G>C
NM_005921.2:c.3118G>C MANE Select	NP_005912.1:p.Asp1040His