Canonical Allele Identifier: CA119073613

Gene: MAP3K1

Linked Data

• dbSNP Id: rs747651236
• gnomAD v3: 5-56875521-C-T
• gnomAD v4: 5-56875521-C-T
• MyVariant Identifiers: chr5:g.56171348C>T (hg19) ; chr5:g.56875521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875521C>T , CM000667.2:g.56875521C>T	GRCh38
NC_000005.9:g.56171348C>T , CM000667.1:g.56171348C>T	GRCh37
NC_000005.8:g.56207105C>T	NCBI36
NG_031884.1:g.65449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+211C>T MANE Select	ENSP00000382423.3:n.1965+211C>T
ENST00000399503.3:c.1965+211C>T	ENSP00000382423.3:n.1965+211C>T
NM_005921.1:c.1965+211C>T	NP_005912.1:n.1965+211C>T
XM_005248519.3:c.1587+211C>T	XP_005248576.2:n.1587+211C>T
XM_011543406.1:c.1710+211C>T	XP_011541708.1:n.1710+211C>T
XM_011543407.1:c.1686+2516C>T	XP_011541709.1:n.1686+2516C>T
XM_011543408.1:c.1965+211C>T	XP_011541710.1:n.1965+211C>T
XM_017009484.1:c.1554+211C>T	XP_016864973.1:n.1554+211C>T
XM_017009485.1:c.1476+211C>T	XP_016864974.1:n.1476+211C>T
XR_001742068.2:n.1996+211C>T
NM_005921.2:c.1965+211C>T MANE Select	NP_005912.1:n.1965+211C>T