Canonical Allele Identifier: CA396375535
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1378829684
gnomAD v2: 16-67973956-G-A
gnomAD v4: 16-67940053-G-A
MyVariant Identifiers: chr16:g.67973956G>A (hg19) chr16:g.67940053G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940053G>A , CM000678.2:g.67940053G>A GRCh38
NC_000016.9:g.67973956G>A , CM000678.1:g.67973956G>A GRCh37
NC_000016.8:g.66531457G>A NCBI36
NG_009778.1:g.9060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1174C>T MANE Select ENSP00000264005.5:p.His392Tyr
ENST00000264005.9:c.1174C>T ENSP00000264005.5:p.His392Tyr
ENST00000570369.5:c.177C>T
ENST00000573538.5:c.912C>T ENSP00000463220.1:n.912C>T
NM_000229.1:c.1174C>T NP_000220.1:p.His392Tyr
NM_000229.2:c.1174C>T MANE Select NP_000220.1:p.His392Tyr
Search 100 bp 5'
Search 100 bp 3'