Canonical Allele Identifier: CA119078963

Gene: MAP3K1

Linked Data

• dbSNP Id: rs772915008
• gnomAD v4: 5-56881518-G-T
• MyVariant Identifiers: chr5:g.56177345G>T (hg19) ; chr5:g.56881518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881518G>T , CM000667.2:g.56881518G>T	GRCh38
NC_000005.9:g.56177345G>T , CM000667.1:g.56177345G>T	GRCh37
NC_000005.8:g.56213102G>T	NCBI36
NG_031884.1:g.71446G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2370-52G>T MANE Select	ENSP00000382423.3:n.2370-52G>T
ENST00000399503.3:c.2370-52G>T	ENSP00000382423.3:n.2370-52G>T
NM_005921.1:c.2370-52G>T	NP_005912.1:n.2370-52G>T
XM_005248519.3:c.1992-52G>T	XP_005248576.2:n.1992-52G>T
XM_011543406.1:c.2115-52G>T	XP_011541708.1:n.2115-52G>T
XM_011543407.1:c.2091-52G>T	XP_011541709.1:n.2091-52G>T
XM_011543408.1:c.2370-52G>T	XP_011541710.1:n.2370-52G>T
XM_017009484.1:c.1959-52G>T	XP_016864973.1:n.1959-52G>T
XM_017009485.1:c.1881-52G>T	XP_016864974.1:n.1881-52G>T
XR_001742068.2:n.2401-52G>T
NM_005921.2:c.2370-52G>T MANE Select	NP_005912.1:n.2370-52G>T