Canonical Allele Identifier: CA8120897
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs761065754
ExAC: 16:67974045 C / G
gnomAD v2: 16-67974045-C-G
gnomAD v4: 16-67940142-C-G
MyVariant Identifiers: chr16:g.67974045C>G (hg19) chr16:g.67940142C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940142C>G , CM000678.2:g.67940142C>G GRCh38
NC_000016.9:g.67974045C>G , CM000678.1:g.67974045C>G GRCh37
NC_000016.8:g.66531546C>G NCBI36
NG_009778.1:g.8971G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1085G>C MANE Select ENSP00000264005.5:p.Gly362Ala
ENST00000264005.9:c.1085G>C ENSP00000264005.5:p.Gly362Ala
ENST00000570369.5:c.156-68G>C
ENST00000573538.5:c.823G>C ENSP00000463220.1:n.823G>C
NM_000229.1:c.1085G>C NP_000220.1:p.Gly362Ala
NM_000229.2:c.1085G>C MANE Select NP_000220.1:p.Gly362Ala
Search 100 bp 5'
Search 100 bp 3'