Canonical Allele Identifier: CA8120864
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs780478467
ExAC: 16:67973886 T / C
gnomAD v2: 16-67973886-T-C
gnomAD v4: 16-67939983-T-C
MyVariant Identifiers: chr16:g.67973886T>C (hg19) chr16:g.67939983T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939983T>C , CM000678.2:g.67939983T>C GRCh38
NC_000016.9:g.67973886T>C , CM000678.1:g.67973886T>C GRCh37
NC_000016.8:g.66531387T>C NCBI36
NG_009778.1:g.9130A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1244A>G MANE Select ENSP00000264005.5:p.Asn415Ser
ENST00000264005.9:c.1244A>G ENSP00000264005.5:p.Asn415Ser
ENST00000570369.5:c.247A>G
ENST00000573538.5:c.982A>G ENSP00000463220.1:n.982A>G
NM_000229.1:c.1244A>G NP_000220.1:p.Asn415Ser
NM_000229.2:c.1244A>G MANE Select NP_000220.1:p.Asn415Ser
Search 100 bp 5'
Search 100 bp 3'