Canonical Allele Identifier: CA8120933
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs149389101
ExAC: 16:67974205 G / A
gnomAD v2: 16-67974205-G-A
gnomAD v4: 16-67940302-G-A
MyVariant Identifiers: chr16:g.67974205G>A (hg19) chr16:g.67940302G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940302G>A , CM000678.2:g.67940302G>A GRCh38
NC_000016.9:g.67974205G>A , CM000678.1:g.67974205G>A GRCh37
NC_000016.8:g.66531706G>A NCBI36
NG_009778.1:g.8811C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.925C>T MANE Select ENSP00000264005.5:p.Leu309=
ENST00000264005.9:c.925C>T ENSP00000264005.5:p.Leu309=
ENST00000570369.5:c.156-228C>T
ENST00000570980.1:c.709C>T ENSP00000464651.1:p.Leu237=
ENST00000573538.5:c.663C>T ENSP00000463220.1:n.663C>T
NM_000229.1:c.925C>T NP_000220.1:p.Leu309=
NM_000229.2:c.925C>T MANE Select NP_000220.1:p.Leu309=
Search 100 bp 5'
Search 100 bp 3'