Canonical Allele Identifier: CA283160616
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs992175443
gnomAD v2: 16-67974059-G-A
gnomAD v3: 16-67940156-G-A
gnomAD v4: 16-67940156-G-A
MyVariant Identifiers: chr16:g.67974059G>A (hg19) chr16:g.67940156G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940156G>A , CM000678.2:g.67940156G>A GRCh38
NC_000016.9:g.67974059G>A , CM000678.1:g.67974059G>A GRCh37
NC_000016.8:g.66531560G>A NCBI36
NG_009778.1:g.8957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1071C>T MANE Select ENSP00000264005.5:p.Tyr357=
ENST00000264005.9:c.1071C>T ENSP00000264005.5:p.Tyr357=
ENST00000570369.5:c.156-82C>T
ENST00000573538.5:c.809C>T ENSP00000463220.1:n.809C>T
NM_000229.1:c.1071C>T NP_000220.1:p.Tyr357=
NM_000229.2:c.1071C>T MANE Select NP_000220.1:p.Tyr357=
Search 100 bp 5'
Search 100 bp 3'