Canonical Allele Identifier: CA978460520
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v3: 16-67940814-T-G
gnomAD v4: 16-67940814-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940814T>G , CM000678.2:g.67940814T>G GRCh38
NC_000016.9:g.67974717T>G , CM000678.1:g.67974717T>G GRCh37
NC_000016.8:g.66532218T>G NCBI36
NG_009778.1:g.8299A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-336A>C MANE Select ENSP00000264005.5:n.749-336A>C
ENST00000264005.9:c.749-336A>C ENSP00000264005.5:n.749-336A>C
ENST00000570369.5:c.156-740A>C
ENST00000570980.1:c.533-336A>C ENSP00000464651.1:n.533-336A>C
ENST00000573538.5:c.409A>C ENSP00000463220.1:p.Ile137Leu
NM_000229.1:c.749-336A>C NP_000220.1:n.749-336A>C
NM_000229.2:c.749-336A>C MANE Select NP_000220.1:n.749-336A>C
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