Canonical Allele Identifier: CA359785749

Gene: MAP3K1

Linked Data

• dbSNP Id: rs702689
• gnomAD v3: 5-56881616-G-C
• gnomAD v4: 5-56881616-G-C
• MyVariant Identifiers: chr5:g.56177443G>C (hg19) ; chr5:g.56881616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881616G>C , CM000667.2:g.56881616G>C	GRCh38
NC_000005.9:g.56177443G>C , CM000667.1:g.56177443G>C	GRCh37
NC_000005.8:g.56213200G>C	NCBI36
NG_031884.1:g.71544G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2416G>C MANE Select	ENSP00000382423.3:p.Asp806His
ENST00000399503.3:c.2416G>C	ENSP00000382423.3:p.Asp806His
NM_005921.1:c.2416G>C	NP_005912.1:p.Asp806His
XM_005248519.3:c.2038G>C	XP_005248576.2:p.Asp680His
XM_011543406.1:c.2161G>C	XP_011541708.1:p.Asp721His
XM_011543407.1:c.2137G>C	XP_011541709.1:p.Asp713His
XM_011543408.1:c.2416G>C	XP_011541710.1:p.Asp806His
XM_017009484.1:c.2005G>C	XP_016864973.1:p.Asp669His
XM_017009485.1:c.1927G>C	XP_016864974.1:p.Asp643His
XR_001742068.2:n.2447G>C
NM_005921.2:c.2416G>C MANE Select	NP_005912.1:p.Asp806His