Canonical Allele Identifier: CA8120863
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs756365811
ExAC: 16:67973865 T / C
gnomAD v2: 16-67973865-T-C
gnomAD v4: 16-67939962-T-C
MyVariant Identifiers: chr16:g.67973865T>C (hg19) chr16:g.67939962T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939962T>C , CM000678.2:g.67939962T>C GRCh38
NC_000016.9:g.67973865T>C , CM000678.1:g.67973865T>C GRCh37
NC_000016.8:g.66531366T>C NCBI36
NG_009778.1:g.9151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1265A>G MANE Select ENSP00000264005.5:p.Tyr422Cys
ENST00000264005.9:c.1265A>G ENSP00000264005.5:p.Tyr422Cys
ENST00000570369.5:c.268A>G
ENST00000573538.5:c.1003A>G ENSP00000463220.1:n.1003A>G
NM_000229.1:c.1265A>G NP_000220.1:p.Tyr422Cys
NM_000229.2:c.1265A>G MANE Select NP_000220.1:p.Tyr422Cys
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