Canonical Allele Identifier: CA8120866
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs755270091
ExAC: 16:67973896 C / T
gnomAD v2: 16-67973896-C-T
gnomAD v4: 16-67939993-C-T
MyVariant Identifiers: chr16:g.67973896C>T (hg19) chr16:g.67939993C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939993C>T , CM000678.2:g.67939993C>T GRCh38
NC_000016.9:g.67973896C>T , CM000678.1:g.67973896C>T GRCh37
NC_000016.8:g.66531397C>T NCBI36
NG_009778.1:g.9120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1234G>A MANE Select ENSP00000264005.5:p.Glu412Lys
ENST00000264005.9:c.1234G>A ENSP00000264005.5:p.Glu412Lys
ENST00000570369.5:c.237G>A
ENST00000573538.5:c.972G>A ENSP00000463220.1:n.972G>A
NM_000229.1:c.1234G>A NP_000220.1:p.Glu412Lys
NM_000229.2:c.1234G>A MANE Select NP_000220.1:p.Glu412Lys
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