Canonical Allele Identifier: CA396376354
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940437T>G , CM000678.2:g.67940437T>G GRCh38
NC_000016.9:g.67974340T>G , CM000678.1:g.67974340T>G GRCh37
NC_000016.8:g.66531841T>G NCBI36
NG_009778.1:g.8676A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.790A>C MANE Select ENSP00000264005.5:p.Lys264Gln
ENST00000264005.9:c.790A>C ENSP00000264005.5:p.Lys264Gln
ENST00000570369.5:c.156-363A>C
ENST00000570980.1:c.574A>C ENSP00000464651.1:p.Lys192Gln
ENST00000573538.5:c.528A>C ENSP00000463220.1:n.528A>C
NM_000229.1:c.790A>C NP_000220.1:p.Lys264Gln
NM_000229.2:c.790A>C MANE Select NP_000220.1:p.Lys264Gln