Canonical Allele Identifier: CA8120962
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs760682057
ExAC: 16:67974377 G / A
gnomAD v2: 16-67974377-G-A
gnomAD v4: 16-67940474-G-A
MyVariant Identifiers: chr16:g.67974377G>A (hg19) chr16:g.67940474G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940474G>A , CM000678.2:g.67940474G>A GRCh38
NC_000016.9:g.67974377G>A , CM000678.1:g.67974377G>A GRCh37
NC_000016.8:g.66531878G>A NCBI36
NG_009778.1:g.8639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.753C>T MANE Select ENSP00000264005.5:p.Asp251=
ENST00000264005.9:c.753C>T ENSP00000264005.5:p.Asp251=
ENST00000570369.5:c.156-400C>T
ENST00000570980.1:c.537C>T ENSP00000464651.1:p.Asp179=
ENST00000573538.5:c.491C>T ENSP00000463220.1:n.491C>T
NM_000229.1:c.753C>T NP_000220.1:p.Asp251=
NM_000229.2:c.753C>T MANE Select NP_000220.1:p.Asp251=
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