Canonical Allele Identifier: CA3272519

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 518361
• ClinVar RCV Id: RCV000605721
• dbSNP Id: rs28710284
• ExAC: 5:56111751 G / C
• gnomAD v2: 5-56111751-G-C
• gnomAD v3: 5-56815924-G-C
• gnomAD v4: 5-56815924-G-C
• MyVariant Identifiers: chr5:g.56111751G>C (hg19) ; chr5:g.56815924G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56815924G>C , CM000667.2:g.56815924G>C	GRCh38
NC_000005.9:g.56111751G>C , CM000667.1:g.56111751G>C	GRCh37
NC_000005.8:g.56147508G>C	NCBI36
NG_031884.1:g.5852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.351G>C MANE Select	ENSP00000382423.3:p.Ala117=
ENST00000399503.3:c.351G>C	ENSP00000382423.3:p.Ala117=
NM_005921.1:c.351G>C	NP_005912.1:p.Ala117=
XM_011543407.1:c.351G>C	XP_011541709.1:p.Ala117=
XM_011543408.1:c.351G>C	XP_011541710.1:p.Ala117=
XR_001742068.2:n.382G>C
NM_005921.2:c.351G>C MANE Select	NP_005912.1:p.Ala117=