Canonical Allele Identifier: CA9138644
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 810631
ClinVar RCV Id: RCV001030782
dbSNP Id: rs138101272
ExAC: 19:7590045 C / T
gnomAD v2: 19-7590045-C-T
gnomAD v4: 19-7525159-C-T
MyVariant Identifiers: chr19:g.7590045C>T (hg19) chr19:g.7525159C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525159C>T , CM000681.2:g.7525159C>T GRCh38
NC_000019.9:g.7590045C>T , CM000681.1:g.7590045C>T GRCh37
NC_000019.8:g.7496045C>T NCBI36
NG_015806.1:g.7550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.230C>T MANE Select ENSP00000264079.5:p.Thr77Met
ENST00000264079.10:c.230C>T ENSP00000264079.5:p.Thr77Met
ENST00000394321.9:n.310C>T
ENST00000596390.1:n.346C>T
ENST00000601003.1:c.230C>T ENSP00000469074.1:p.Thr77Met
NM_020533.2:c.230C>T NP_065394.1:p.Thr77Met
NM_020533.3:c.230C>T MANE Select NP_065394.1:p.Thr77Met
Search 100 bp 5'
Search 100 bp 3'