Canonical Allele Identifier: CA359786459

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881910-T-G
• MyVariant Identifiers: chr5:g.56177737T>G (hg19) ; chr5:g.56881910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881910T>G , CM000667.2:g.56881910T>G	GRCh38
NC_000005.9:g.56177737T>G , CM000667.1:g.56177737T>G	GRCh37
NC_000005.8:g.56213494T>G	NCBI36
NG_031884.1:g.71838T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2710T>G MANE Select	ENSP00000382423.3:p.Cys904Gly
ENST00000399503.3:c.2710T>G	ENSP00000382423.3:p.Cys904Gly
NM_005921.1:c.2710T>G	NP_005912.1:p.Cys904Gly
XM_005248519.3:c.2332T>G	XP_005248576.2:p.Cys778Gly
XM_011543406.1:c.2455T>G	XP_011541708.1:p.Cys819Gly
XM_011543407.1:c.2431T>G	XP_011541709.1:p.Cys811Gly
XM_011543408.1:c.2710T>G	XP_011541710.1:p.Cys904Gly
XM_017009484.1:c.2299T>G	XP_016864973.1:p.Cys767Gly
XM_017009485.1:c.2221T>G	XP_016864974.1:p.Cys741Gly
XR_001742068.2:n.2741T>G
NM_005921.2:c.2710T>G MANE Select	NP_005912.1:p.Cys904Gly