Canonical Allele Identifier: CA119519607

Gene: MAP3K1

Linked Data

• dbSNP Id: rs776394548
• gnomAD v2: 5-56153315-G-T
• gnomAD v3: 5-56857488-G-T
• gnomAD v4: 5-56857488-G-T
• MyVariant Identifiers: chr5:g.56153315G>T (hg19) ; chr5:g.56857488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56857488G>T , CM000667.2:g.56857488G>T	GRCh38
NC_000005.9:g.56153315G>T , CM000667.1:g.56153315G>T	GRCh37
NC_000005.8:g.56189072G>T	NCBI36
NG_031884.1:g.47416G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.633+738G>T MANE Select	ENSP00000382423.3:n.633+738G>T
ENST00000399503.3:c.633+738G>T	ENSP00000382423.3:n.633+738G>T
NM_005921.1:c.633+738G>T	NP_005912.1:n.633+738G>T
XM_005248519.3:c.255+738G>T	XP_005248576.2:n.255+738G>T
XM_011543406.1:c.378+738G>T	XP_011541708.1:n.378+738G>T
XM_011543407.1:c.633+738G>T	XP_011541709.1:n.633+738G>T
XM_011543408.1:c.633+738G>T	XP_011541710.1:n.633+738G>T
XM_017009484.1:c.222+738G>T	XP_016864973.1:n.222+738G>T
XM_017009485.1:c.144+738G>T	XP_016864974.1:n.144+738G>T
XR_001742068.2:n.664+738G>T
NM_005921.2:c.633+738G>T MANE Select	NP_005912.1:n.633+738G>T