Canonical Allele Identifier: CA2633852029
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940830-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940830C>G , CM000678.2:g.67940830C>G GRCh38
NC_000016.9:g.67974733C>G , CM000678.1:g.67974733C>G GRCh37
NC_000016.8:g.66532234C>G NCBI36
NG_009778.1:g.8283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-352G>C MANE Select ENSP00000264005.5:n.749-352G>C
ENST00000264005.9:c.749-352G>C ENSP00000264005.5:n.749-352G>C
ENST00000570369.5:c.156-756G>C
ENST00000570980.1:c.533-352G>C ENSP00000464651.1:n.533-352G>C
ENST00000573538.5:c.393G>C ENSP00000463220.1:p.Glu131Asp
NM_000229.1:c.749-352G>C NP_000220.1:n.749-352G>C
NM_000229.2:c.749-352G>C MANE Select NP_000220.1:n.749-352G>C
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