Canonical Allele Identifier: CA3273048

Gene: MAP3K1

Linked Data

• dbSNP Id: rs547464467
• ExAC: 5:56177737 T / A
• gnomAD v2: 5-56177737-T-A
• gnomAD v4: 5-56881910-T-A
• MyVariant Identifiers: chr5:g.56177737T>A (hg19) ; chr5:g.56881910T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2710T>A MANE Select	ENSP00000382423.3:p.Cys904Ser
ENST00000399503.3:c.2710T>A	ENSP00000382423.3:p.Cys904Ser
NM_005921.1:c.2710T>A	NP_005912.1:p.Cys904Ser
XM_005248519.3:c.2332T>A	XP_005248576.2:p.Cys778Ser
XM_011543406.1:c.2455T>A	XP_011541708.1:p.Cys819Ser
XM_011543407.1:c.2431T>A	XP_011541709.1:p.Cys811Ser
XM_011543408.1:c.2710T>A	XP_011541710.1:p.Cys904Ser
XM_017009484.1:c.2299T>A	XP_016864973.1:p.Cys767Ser
XM_017009485.1:c.2221T>A	XP_016864974.1:p.Cys741Ser
XR_001742068.2:n.2741T>A
NM_005921.2:c.2710T>A MANE Select	NP_005912.1:p.Cys904Ser