Canonical Allele Identifier: CA396376301
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940412G>T , CM000678.2:g.67940412G>T GRCh38
NC_000016.9:g.67974315G>T , CM000678.1:g.67974315G>T GRCh37
NC_000016.8:g.66531816G>T NCBI36
NG_009778.1:g.8701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.815C>A MANE Select ENSP00000264005.5:p.Thr272Asn
ENST00000264005.9:c.815C>A ENSP00000264005.5:p.Thr272Asn
ENST00000570369.5:c.156-338C>A
ENST00000570980.1:c.599C>A ENSP00000464651.1:p.Thr200Asn
ENST00000573538.5:c.553C>A ENSP00000463220.1:n.553C>A
NM_000229.1:c.815C>A NP_000220.1:p.Thr272Asn
NM_000229.2:c.815C>A MANE Select NP_000220.1:p.Thr272Asn