Canonical Allele Identifier: CA8980083
Gene: LMAN1 HGNC NCBI

Linked Data

dbSNP Id: rs773505195
ExAC: 18:57026405 G / C
gnomAD v2: 18-57026405-G-C
gnomAD v4: 18-59359173-G-C
MyVariant Identifiers: chr18:g.57026405G>C (hg19) chr18:g.59359173G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59359173G>C , CM000680.2:g.59359173G>C GRCh38
NC_000018.9:g.57026405G>C , CM000680.1:g.57026405G>C GRCh37
NC_000018.8:g.55177385G>C NCBI36
NG_012097.1:g.5104C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251047.6:c.72C>G MANE Select ENSP00000251047.4:p.Leu24=
ENST00000251047.5:c.72C>G ENSP00000251047.4:p.Leu24=
ENST00000587561.1:n.93C>G
NM_005570.3:c.72C>G NP_005561.1:p.Leu24=
NM_005570.4:c.72C>G MANE Select NP_005561.1:p.Leu24=
Search 100 bp 5'
Search 100 bp 3'