Canonical Allele Identifier: CA396375336
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs370803551
gnomAD v2: 16-67973863-G-T
gnomAD v4: 16-67939960-G-T
MyVariant Identifiers: chr16:g.67973863G>T (hg19) chr16:g.67939960G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939960G>T , CM000678.2:g.67939960G>T GRCh38
NC_000016.9:g.67973863G>T , CM000678.1:g.67973863G>T GRCh37
NC_000016.8:g.66531364G>T NCBI36
NG_009778.1:g.9153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1267C>A MANE Select ENSP00000264005.5:p.Arg423Ser
ENST00000264005.9:c.1267C>A ENSP00000264005.5:p.Arg423Ser
ENST00000570369.5:c.270C>A
ENST00000573538.5:c.1005C>A ENSP00000463220.1:n.1005C>A
NM_000229.1:c.1267C>A NP_000220.1:p.Arg423Ser
NM_000229.2:c.1267C>A MANE Select NP_000220.1:p.Arg423Ser
Search 100 bp 5'
Search 100 bp 3'