Canonical Allele Identifier: CA2597452030
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs189323062
gnomAD v3: 16-67940657-A-T
gnomAD v4: 16-67940657-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940657A>T , CM000678.2:g.67940657A>T GRCh38
NC_000016.9:g.67974560A>T , CM000678.1:g.67974560A>T GRCh37
NC_000016.8:g.66532061A>T NCBI36
NG_009778.1:g.8456T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-179T>A MANE Select ENSP00000264005.5:n.749-179T>A
ENST00000264005.9:c.749-179T>A ENSP00000264005.5:n.749-179T>A
ENST00000570369.5:c.156-583T>A
ENST00000570980.1:c.533-179T>A ENSP00000464651.1:n.533-179T>A
ENST00000573538.5:c.486+80T>A ENSP00000463220.1:n.486+80T>A
NM_000229.1:c.749-179T>A NP_000220.1:n.749-179T>A
NM_000229.2:c.749-179T>A MANE Select NP_000220.1:n.749-179T>A
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