Canonical Allele Identifier: CA505233427
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533777-T-C
MyVariant Identifiers: chr19:g.7598663T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533777T>C , CM000681.2:g.7533777T>C GRCh38
NC_000019.9:g.7598663T>C , CM000681.1:g.7598663T>C GRCh37
NC_000019.8:g.7504663T>C NCBI36
NG_013374.1:g.4626T>C
NG_015806.1:g.16168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1725T>C MANE Select ENSP00000264079.5:p.His575=
ENST00000264079.10:c.1725T>C ENSP00000264079.5:p.His575=
ENST00000394321.9:n.2040T>C
ENST00000599334.1:c.453T>C
ENST00000601870.1:c.78T>C
ENST00000602227.1:n.279T>C
NM_020533.2:c.1725T>C NP_065394.1:p.His575=
NM_020533.3:c.1725T>C MANE Select NP_065394.1:p.His575=
Search 100 bp 5'
Search 100 bp 3'