Canonical Allele Identifier: CA8980113
Gene: LMAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 327581
ClinVar RCV Id: RCV000408195
dbSNP Id: rs765835101
ExAC: 18:57026481 G / A
gnomAD v2: 18-57026481-G-A
gnomAD v3: 18-59359249-G-A
gnomAD v4: 18-59359249-G-A
MyVariant Identifiers: chr18:g.57026481G>A (hg19) chr18:g.59359249G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59359249G>A , CM000680.2:g.59359249G>A GRCh38
NC_000018.9:g.57026481G>A , CM000680.1:g.57026481G>A GRCh37
NC_000018.8:g.55177461G>A NCBI36
NG_012097.1:g.5028C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251047.6:c.-5C>T MANE Select ENSP00000251047.4:n.-5C>T
ENST00000251047.5:c.-5C>T ENSP00000251047.4:n.-5C>T
ENST00000587561.1:n.17C>T
NM_005570.3:c.-5C>T NP_005561.1:n.-5C>T
NM_005570.4:c.-5C>T MANE Select NP_005561.1:n.-5C>T
Search 100 bp 5'
Search 100 bp 3'