Canonical Allele Identifier: CA496384348
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67942949-G-C
MyVariant Identifiers: chr16:g.67976852G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942949G>C , CM000678.2:g.67942949G>C GRCh38
NC_000016.9:g.67976852G>C , CM000678.1:g.67976852G>C GRCh37
NC_000016.8:g.66534353G>C NCBI36
NG_009778.1:g.6164C>G
NG_033098.1:g.30746C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.339C>G MANE Select ENSP00000264005.5:p.Leu113=
ENST00000264005.9:c.339C>G ENSP00000264005.5:p.Leu113=
ENST00000570369.5:c.67C>G
ENST00000570980.1:c.123C>G ENSP00000464651.1:p.Leu41=
ENST00000575277.1:n.117C>G
ENST00000575467.5:c.*34C>G ENSP00000460653.1:n.*34C>G
NM_000229.1:c.339C>G NP_000220.1:p.Leu113=
NM_000229.2:c.339C>G MANE Select NP_000220.1:p.Leu113=
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