Canonical Allele Identifier: CA396375788
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940175-T-C
MyVariant Identifiers: chr16:g.67974078T>C (hg19) chr16:g.67940175T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940175T>C , CM000678.2:g.67940175T>C GRCh38
NC_000016.9:g.67974078T>C , CM000678.1:g.67974078T>C GRCh37
NC_000016.8:g.66531579T>C NCBI36
NG_009778.1:g.8938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1052A>G MANE Select ENSP00000264005.5:p.Tyr351Cys
ENST00000264005.9:c.1052A>G ENSP00000264005.5:p.Tyr351Cys
ENST00000570369.5:c.156-101A>G
ENST00000573538.5:c.790A>G ENSP00000463220.1:n.790A>G
NM_000229.1:c.1052A>G NP_000220.1:p.Tyr351Cys
NM_000229.2:c.1052A>G MANE Select NP_000220.1:p.Tyr351Cys
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