Canonical Allele Identifier: CA505230754
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2023365
ClinVar RCV Id: RCV002875832
MyVariant Identifiers: chr19:g.7592813T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527927T>C , CM000681.2:g.7527927T>C GRCh38
NC_000019.9:g.7592813T>C , CM000681.1:g.7592813T>C GRCh37
NC_000019.8:g.7498813T>C NCBI36
NG_015806.1:g.10318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.744T>C MANE Select ENSP00000264079.5:p.Asn248=
ENST00000264079.10:c.744T>C ENSP00000264079.5:p.Asn248=
ENST00000394321.9:n.1059T>C
NM_020533.2:c.744T>C NP_065394.1:p.Asn248=
NM_020533.3:c.744T>C MANE Select NP_065394.1:p.Asn248=
Search 100 bp 5'
Search 100 bp 3'