Canonical Allele Identifier: CA2587948636
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528349-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528349T>C , CM000681.2:g.7528349T>C GRCh38
NC_000019.9:g.7593235T>C , CM000681.1:g.7593235T>C GRCh37
NC_000019.8:g.7499235T>C NCBI36
NG_015806.1:g.10740T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+92T>C MANE Select ENSP00000264079.5:n.877+92T>C
ENST00000264079.10:c.877+92T>C ENSP00000264079.5:n.877+92T>C
ENST00000394321.9:n.1192+92T>C
NM_020533.2:c.877+92T>C NP_065394.1:n.877+92T>C
NM_020533.3:c.877+92T>C MANE Select NP_065394.1:n.877+92T>C
Search 100 bp 5'
Search 100 bp 3'