Canonical Allele Identifier: CA2229563541
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs2058287525
gnomAD v4: 16-67940810-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940810G>A , CM000678.2:g.67940810G>A GRCh38
NC_000016.9:g.67974713G>A , CM000678.1:g.67974713G>A GRCh37
NC_000016.8:g.66532214G>A NCBI36
NG_009778.1:g.8303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-332C>T MANE Select ENSP00000264005.5:n.749-332C>T
ENST00000264005.9:c.749-332C>T ENSP00000264005.5:n.749-332C>T
ENST00000570369.5:c.156-736C>T
ENST00000570980.1:c.533-332C>T ENSP00000464651.1:n.533-332C>T
ENST00000573538.5:c.413C>T ENSP00000463220.1:p.Ala138Val
NM_000229.1:c.749-332C>T NP_000220.1:n.749-332C>T
NM_000229.2:c.749-332C>T MANE Select NP_000220.1:n.749-332C>T
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