Canonical Allele Identifier: CA505230448
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592468T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527582T>C , CM000681.2:g.7527582T>C GRCh38
NC_000019.9:g.7592468T>C , CM000681.1:g.7592468T>C GRCh37
NC_000019.8:g.7498468T>C NCBI36
NG_015806.1:g.9973T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.634T>C MANE Select ENSP00000264079.5:p.Leu212=
ENST00000264079.10:c.634T>C ENSP00000264079.5:p.Leu212=
ENST00000394321.9:n.714T>C
ENST00000598406.1:n.455T>C
ENST00000601003.1:c.572-282T>C ENSP00000469074.1:n.572-282T>C
NM_020533.2:c.634T>C NP_065394.1:p.Leu212=
NM_020533.3:c.634T>C MANE Select NP_065394.1:p.Leu212=
Search 100 bp 5'
Search 100 bp 3'