Canonical Allele Identifier: CA359780691

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111920594
• gnomAD v4: 5-56875110-C-T
• MyVariant Identifiers: chr5:g.56170937C>T (hg19) ; chr5:g.56875110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875110C>T , CM000667.2:g.56875110C>T	GRCh38
NC_000005.9:g.56170937C>T , CM000667.1:g.56170937C>T	GRCh37
NC_000005.8:g.56206694C>T	NCBI36
NG_031884.1:g.65038C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1765C>T MANE Select	ENSP00000382423.3:p.His589Tyr
ENST00000399503.3:c.1765C>T	ENSP00000382423.3:p.His589Tyr
NM_005921.1:c.1765C>T	NP_005912.1:p.His589Tyr
XM_005248519.3:c.1387C>T	XP_005248576.2:p.His463Tyr
XM_011543406.1:c.1510C>T	XP_011541708.1:p.His504Tyr
XM_011543407.1:c.1686+2105C>T	XP_011541709.1:n.1686+2105C>T
XM_011543408.1:c.1765C>T	XP_011541710.1:p.His589Tyr
XM_017009484.1:c.1354C>T	XP_016864973.1:p.His452Tyr
XM_017009485.1:c.1276C>T	XP_016864974.1:p.His426Tyr
XR_001742068.2:n.1796C>T
NM_005921.2:c.1765C>T MANE Select	NP_005912.1:p.His589Tyr