Canonical Allele Identifier: CA2587949403
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530144-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530144G>C , CM000681.2:g.7530144G>C GRCh38
NC_000019.9:g.7595030G>C , CM000681.1:g.7595030G>C GRCh37
NC_000019.8:g.7501030G>C NCBI36
NG_013374.1:g.993G>C
NG_015806.1:g.12535G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-142G>C MANE Select ENSP00000264079.5:n.1360-142G>C
ENST00000264079.10:c.1360-142G>C ENSP00000264079.5:n.1360-142G>C
ENST00000394321.9:n.1675-142G>C
ENST00000594692.1:n.356-142G>C
ENST00000595860.5:n.543-142G>C
ENST00000599334.1:c.237-291G>C
NM_020533.2:c.1360-142G>C NP_065394.1:n.1360-142G>C
NM_020533.3:c.1360-142G>C MANE Select NP_065394.1:n.1360-142G>C
Search 100 bp 5'
Search 100 bp 3'