Canonical Allele Identifier: CA8120877
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs761272947
ExAC: 16:67973966 T / G
gnomAD v2: 16-67973966-T-G
gnomAD v4: 16-67940063-T-G
MyVariant Identifiers: chr16:g.67973966T>G (hg19) chr16:g.67940063T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940063T>G , CM000678.2:g.67940063T>G GRCh38
NC_000016.9:g.67973966T>G , CM000678.1:g.67973966T>G GRCh37
NC_000016.8:g.66531467T>G NCBI36
NG_009778.1:g.9050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1164A>C MANE Select ENSP00000264005.5:p.Pro388=
ENST00000264005.9:c.1164A>C ENSP00000264005.5:p.Pro388=
ENST00000570369.5:c.167A>C
ENST00000573538.5:c.902A>C ENSP00000463220.1:n.902A>C
NM_000229.1:c.1164A>C NP_000220.1:p.Pro388=
NM_000229.2:c.1164A>C MANE Select NP_000220.1:p.Pro388=
Search 100 bp 5'
Search 100 bp 3'