Canonical Allele Identifier: CA359787016

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748232253
• gnomAD v4: 5-56882095-G-C
• MyVariant Identifiers: chr5:g.56177922G>C (hg19) ; chr5:g.56882095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882095G>C , CM000667.2:g.56882095G>C	GRCh38
NC_000005.9:g.56177922G>C , CM000667.1:g.56177922G>C	GRCh37
NC_000005.8:g.56213679G>C	NCBI36
NG_031884.1:g.72023G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2895G>C MANE Select	ENSP00000382423.3:p.Gln965His
ENST00000399503.3:c.2895G>C	ENSP00000382423.3:p.Gln965His
NM_005921.1:c.2895G>C	NP_005912.1:p.Gln965His
XM_005248519.3:c.2517G>C	XP_005248576.2:p.Gln839His
XM_011543406.1:c.2640G>C	XP_011541708.1:p.Gln880His
XM_011543407.1:c.2616G>C	XP_011541709.1:p.Gln872His
XM_011543408.1:c.2895G>C	XP_011541710.1:p.Gln965His
XM_017009484.1:c.2484G>C	XP_016864973.1:p.Gln828His
XM_017009485.1:c.2406G>C	XP_016864974.1:p.Gln802His
XR_001742068.2:n.2926G>C
NM_005921.2:c.2895G>C MANE Select	NP_005912.1:p.Gln965His