Canonical Allele Identifier: CA2587949387
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530135-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530135A>C , CM000681.2:g.7530135A>C GRCh38
NC_000019.9:g.7595021A>C , CM000681.1:g.7595021A>C GRCh37
NC_000019.8:g.7501021A>C NCBI36
NG_013374.1:g.984A>C
NG_015806.1:g.12526A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-151A>C MANE Select ENSP00000264079.5:n.1360-151A>C
ENST00000264079.10:c.1360-151A>C ENSP00000264079.5:n.1360-151A>C
ENST00000394321.9:n.1675-151A>C
ENST00000594692.1:n.356-151A>C
ENST00000595860.5:n.543-151A>C
ENST00000599334.1:c.237-300A>C
NM_020533.2:c.1360-151A>C NP_065394.1:n.1360-151A>C
NM_020533.3:c.1360-151A>C MANE Select NP_065394.1:n.1360-151A>C
Search 100 bp 5'
Search 100 bp 3'