Canonical Allele Identifier: CA2633851697
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940728-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940728A>C , CM000678.2:g.67940728A>C GRCh38
NC_000016.9:g.67974631A>C , CM000678.1:g.67974631A>C GRCh37
NC_000016.8:g.66532132A>C NCBI36
NG_009778.1:g.8385T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-250T>G MANE Select ENSP00000264005.5:n.749-250T>G
ENST00000264005.9:c.749-250T>G ENSP00000264005.5:n.749-250T>G
ENST00000570369.5:c.156-654T>G
ENST00000570980.1:c.533-250T>G ENSP00000464651.1:n.533-250T>G
ENST00000573538.5:c.486+9T>G ENSP00000463220.1:n.486+9T>G
NM_000229.1:c.749-250T>G NP_000220.1:n.749-250T>G
NM_000229.2:c.749-250T>G MANE Select NP_000220.1:n.749-250T>G
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