Canonical Allele Identifier: CA304894541
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs985208875
gnomAD v2: 19-7589865-C-T
gnomAD v3: 19-7524979-C-T
gnomAD v4: 19-7524979-C-T
MyVariant Identifiers: chr19:g.7589865C>T (hg19) chr19:g.7524979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524979C>T , CM000681.2:g.7524979C>T GRCh38
NC_000019.9:g.7589865C>T , CM000681.1:g.7589865C>T GRCh37
NC_000019.8:g.7495865C>T NCBI36
NG_015806.1:g.7370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.50C>T MANE Select ENSP00000264079.5:p.Thr17Ile
ENST00000264079.10:c.50C>T ENSP00000264079.5:p.Thr17Ile
ENST00000394321.9:n.130C>T
ENST00000596390.1:n.166C>T
ENST00000601003.1:c.50C>T ENSP00000469074.1:p.Thr17Ile
NM_020533.2:c.50C>T NP_065394.1:p.Thr17Ile
XR_936293.2:n.2G>A
XR_936294.2:n.2G>A
NM_020533.3:c.50C>T MANE Select NP_065394.1:p.Thr17Ile
Search 100 bp 5'
Search 100 bp 3'