Canonical Allele Identifier: CA9552697

Gene: LMTK3

Linked Data

• ClinVar Variation Id: 725219
• ClinVar RCV Id: RCV000899249
• dbSNP Id: rs771720100
• ExAC: 19:49005681 C / G
• gnomAD v2: 19-49005681-C-G
• gnomAD v3: 19-48502424-C-G
• gnomAD v4: 19-48502424-C-G
• MyVariant Identifiers: chr19:g.49005681C>G (hg19) ; chr19:g.48502424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48502424C>G , CM000681.2:g.48502424C>G	GRCh38
NC_000019.9:g.49005681C>G , CM000681.1:g.49005681C>G	GRCh37
NC_000019.8:g.53697493C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600059.6:c.794+9G>C MANE Select	ENSP00000472020.1:n.794+9G>C
ENST00000647709.2:c.*443+9G>C	ENSP00000496937.2:n.*443+9G>C
ENST00000650440.1:c.872+9G>C	ENSP00000497480.1:n.872+9G>C
ENST00000673139.1:c.794+9G>C	ENSP00000500153.1:n.794+9G>C
ENST00000270238.3:c.881+9G>C	ENSP00000270238.3:n.881+9G>C
ENST00000600059.5:c.794+9G>C	ENSP00000472020.1:n.794+9G>C
NM_001080434.1:c.881+9G>C	NP_001073903.1:n.881+9G>C
XM_011526411.1:c.872+9G>C	XP_011524713.1:n.872+9G>C
XM_011526412.1:c.839+9G>C	XP_011524714.1:n.839+9G>C
XM_011526411.2:c.872+9G>C	XP_011524713.1:n.872+9G>C
XM_011526412.2:c.839+9G>C	XP_011524714.1:n.839+9G>C
NM_001080434.2:c.794+9G>C	NP_001073903.2:n.794+9G>C
NM_001388485.1:c.794+9G>C MANE Select	NP_001375414.1:n.794+9G>C