Canonical Allele Identifier: CA630396911
Gene: LMAN1 HGNC NCBI

Linked Data

dbSNP Id: rs1317240224
gnomAD v2: 18-57026478-T-C
gnomAD v4: 18-59359246-T-C
MyVariant Identifiers: chr18:g.57026478T>C (hg19) chr18:g.59359246T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59359246T>C , CM000680.2:g.59359246T>C GRCh38
NC_000018.9:g.57026478T>C , CM000680.1:g.57026478T>C GRCh37
NC_000018.8:g.55177458T>C NCBI36
NG_012097.1:g.5031A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251047.6:c.-2A>G MANE Select ENSP00000251047.4:n.-2A>G
ENST00000251047.5:c.-2A>G ENSP00000251047.4:n.-2A>G
ENST00000587561.1:n.20A>G
NM_005570.3:c.-2A>G NP_005561.1:n.-2A>G
NM_005570.4:c.-2A>G MANE Select NP_005561.1:n.-2A>G
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