Canonical Allele Identifier: CA8120956
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs749825308
ExAC: 16:67974342 A / T
gnomAD v2: 16-67974342-A-T
gnomAD v4: 16-67940439-A-T
MyVariant Identifiers: chr16:g.67974342A>T (hg19) chr16:g.67940439A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940439A>T , CM000678.2:g.67940439A>T GRCh38
NC_000016.9:g.67974342A>T , CM000678.1:g.67974342A>T GRCh37
NC_000016.8:g.66531843A>T NCBI36
NG_009778.1:g.8674T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.788T>A MANE Select ENSP00000264005.5:p.Leu263Gln
ENST00000264005.9:c.788T>A ENSP00000264005.5:p.Leu263Gln
ENST00000570369.5:c.156-365T>A
ENST00000570980.1:c.572T>A ENSP00000464651.1:p.Leu191Gln
ENST00000573538.5:c.526T>A ENSP00000463220.1:n.526T>A
NM_000229.1:c.788T>A NP_000220.1:p.Leu263Gln
NM_000229.2:c.788T>A MANE Select NP_000220.1:p.Leu263Gln
Search 100 bp 5'
Search 100 bp 3'