Canonical Allele Identifier: CA359787490

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1026320605
• gnomAD v4: 5-56882223-G-C
• MyVariant Identifiers: chr5:g.56178050G>C (hg19) ; chr5:g.56882223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882223G>C , CM000667.2:g.56882223G>C	GRCh38
NC_000005.9:g.56178050G>C , CM000667.1:g.56178050G>C	GRCh37
NC_000005.8:g.56213807G>C	NCBI36
NG_031884.1:g.72151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3023G>C MANE Select	ENSP00000382423.3:p.Gly1008Ala
ENST00000399503.3:c.3023G>C	ENSP00000382423.3:p.Gly1008Ala
NM_005921.1:c.3023G>C	NP_005912.1:p.Gly1008Ala
XM_005248519.3:c.2645G>C	XP_005248576.2:p.Gly882Ala
XM_011543406.1:c.2768G>C	XP_011541708.1:p.Gly923Ala
XM_011543407.1:c.2744G>C	XP_011541709.1:p.Gly915Ala
XM_011543408.1:c.3023G>C	XP_011541710.1:p.Gly1008Ala
XM_017009484.1:c.2612G>C	XP_016864973.1:p.Gly871Ala
XM_017009485.1:c.2534G>C	XP_016864974.1:p.Gly845Ala
XR_001742068.2:n.3054G>C
NM_005921.2:c.3023G>C MANE Select	NP_005912.1:p.Gly1008Ala