Canonical Allele Identifier: CA559377596

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1331554074
• gnomAD v2: 5-56171320-T-C
• gnomAD v3: 5-56875493-T-C
• gnomAD v4: 5-56875493-T-C
• MyVariant Identifiers: chr5:g.56171320T>C (hg19) ; chr5:g.56875493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875493T>C , CM000667.2:g.56875493T>C	GRCh38
NC_000005.9:g.56171320T>C , CM000667.1:g.56171320T>C	GRCh37
NC_000005.8:g.56207077T>C	NCBI36
NG_031884.1:g.65421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+183T>C MANE Select	ENSP00000382423.3:n.1965+183T>C
ENST00000399503.3:c.1965+183T>C	ENSP00000382423.3:n.1965+183T>C
NM_005921.1:c.1965+183T>C	NP_005912.1:n.1965+183T>C
XM_005248519.3:c.1587+183T>C	XP_005248576.2:n.1587+183T>C
XM_011543406.1:c.1710+183T>C	XP_011541708.1:n.1710+183T>C
XM_011543407.1:c.1686+2488T>C	XP_011541709.1:n.1686+2488T>C
XM_011543408.1:c.1965+183T>C	XP_011541710.1:n.1965+183T>C
XM_017009484.1:c.1554+183T>C	XP_016864973.1:n.1554+183T>C
XM_017009485.1:c.1476+183T>C	XP_016864974.1:n.1476+183T>C
XR_001742068.2:n.1996+183T>C
NM_005921.2:c.1965+183T>C MANE Select	NP_005912.1:n.1965+183T>C