Canonical Allele Identifier: CA9138628
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs536694726
ExAC: 19:7589957 T / C
gnomAD v2: 19-7589957-T-C
gnomAD v3: 19-7525071-T-C
gnomAD v4: 19-7525071-T-C
MyVariant Identifiers: chr19:g.7589957T>C (hg19) chr19:g.7525071T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525071T>C , CM000681.2:g.7525071T>C GRCh38
NC_000019.9:g.7589957T>C , CM000681.1:g.7589957T>C GRCh37
NC_000019.8:g.7495957T>C NCBI36
NG_015806.1:g.7462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.142T>C MANE Select ENSP00000264079.5:p.Phe48Leu
ENST00000264079.10:c.142T>C ENSP00000264079.5:p.Phe48Leu
ENST00000394321.9:n.222T>C
ENST00000596390.1:n.258T>C
ENST00000601003.1:c.142T>C ENSP00000469074.1:p.Phe48Leu
NM_020533.2:c.142T>C NP_065394.1:p.Phe48Leu
NM_020533.3:c.142T>C MANE Select NP_065394.1:p.Phe48Leu
Search 100 bp 5'
Search 100 bp 3'