Canonical Allele Identifier: CA444391485

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1430574100
• gnomAD v2: 5-56155502-T-C
• gnomAD v4: 5-56859675-T-C
• MyVariant Identifiers: chr5:g.56155502T>C (hg19) ; chr5:g.56859675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859675T>C , CM000667.2:g.56859675T>C	GRCh38
NC_000005.9:g.56155502T>C , CM000667.1:g.56155502T>C	GRCh37
NC_000005.8:g.56191259T>C	NCBI36
NG_031884.1:g.49603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.634-40T>C MANE Select	ENSP00000382423.3:n.634-40T>C
ENST00000399503.3:c.634-40T>C	ENSP00000382423.3:n.634-40T>C
NM_005921.1:c.634-40T>C	NP_005912.1:n.634-40T>C
XM_005248519.3:c.256-40T>C	XP_005248576.2:n.256-40T>C
XM_011543406.1:c.379-40T>C	XP_011541708.1:n.379-40T>C
XM_011543407.1:c.634-40T>C	XP_011541709.1:n.634-40T>C
XM_011543408.1:c.634-40T>C	XP_011541710.1:n.634-40T>C
XM_017009484.1:c.223-40T>C	XP_016864973.1:n.223-40T>C
XM_017009485.1:c.145-40T>C	XP_016864974.1:n.145-40T>C
XR_001742068.2:n.665-40T>C
NM_005921.2:c.634-40T>C MANE Select	NP_005912.1:n.634-40T>C