Canonical Allele Identifier: CA403084095
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527919-A-C
MyVariant Identifiers: chr19:g.7592805A>C (hg19) chr19:g.7527919A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527919A>C , CM000681.2:g.7527919A>C GRCh38
NC_000019.9:g.7592805A>C , CM000681.1:g.7592805A>C GRCh37
NC_000019.8:g.7498805A>C NCBI36
NG_015806.1:g.10310A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.736A>C MANE Select ENSP00000264079.5:p.Ile246Leu
ENST00000264079.10:c.736A>C ENSP00000264079.5:p.Ile246Leu
ENST00000394321.9:n.1051A>C
NM_020533.2:c.736A>C NP_065394.1:p.Ile246Leu
NM_020533.3:c.736A>C MANE Select NP_065394.1:p.Ile246Leu
Search 100 bp 5'
Search 100 bp 3'