Canonical Allele Identifier: CA8120957
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs769051533
ExAC: 16:67974343 G / A
gnomAD v2: 16-67974343-G-A
gnomAD v4: 16-67940440-G-A
MyVariant Identifiers: chr16:g.67974343G>A (hg19) chr16:g.67940440G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940440G>A , CM000678.2:g.67940440G>A GRCh38
NC_000016.9:g.67974343G>A , CM000678.1:g.67974343G>A GRCh37
NC_000016.8:g.66531844G>A NCBI36
NG_009778.1:g.8673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.787C>T MANE Select ENSP00000264005.5:p.Leu263=
ENST00000264005.9:c.787C>T ENSP00000264005.5:p.Leu263=
ENST00000570369.5:c.156-366C>T
ENST00000570980.1:c.571C>T ENSP00000464651.1:p.Leu191=
ENST00000573538.5:c.525C>T ENSP00000463220.1:n.525C>T
NM_000229.1:c.787C>T NP_000220.1:p.Leu263=
NM_000229.2:c.787C>T MANE Select NP_000220.1:p.Leu263=
Search 100 bp 5'
Search 100 bp 3'