Canonical Allele Identifier: CA283161263
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1032219742
gnomAD v3: 16-67940688-G-A
gnomAD v4: 16-67940688-G-A
MyVariant Identifiers: chr16:g.67974591G>A (hg19) chr16:g.67940688G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940688G>A , CM000678.2:g.67940688G>A GRCh38
NC_000016.9:g.67974591G>A , CM000678.1:g.67974591G>A GRCh37
NC_000016.8:g.66532092G>A NCBI36
NG_009778.1:g.8425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-210C>T MANE Select ENSP00000264005.5:n.749-210C>T
ENST00000264005.9:c.749-210C>T ENSP00000264005.5:n.749-210C>T
ENST00000570369.5:c.156-614C>T
ENST00000570980.1:c.533-210C>T ENSP00000464651.1:n.533-210C>T
ENST00000573538.5:c.486+49C>T ENSP00000463220.1:n.486+49C>T
NM_000229.1:c.749-210C>T NP_000220.1:n.749-210C>T
NM_000229.2:c.749-210C>T MANE Select NP_000220.1:n.749-210C>T
Search 100 bp 5'
Search 100 bp 3'