Canonical Allele Identifier: CA2587949625
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530281-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530281G>A , CM000681.2:g.7530281G>A GRCh38
NC_000019.9:g.7595167G>A , CM000681.1:g.7595167G>A GRCh37
NC_000019.8:g.7501167G>A NCBI36
NG_013374.1:g.1130G>A
NG_015806.1:g.12672G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-5G>A MANE Select ENSP00000264079.5:n.1360-5G>A
ENST00000264079.10:c.1360-5G>A ENSP00000264079.5:n.1360-5G>A
ENST00000394321.9:n.1675-5G>A
ENST00000594692.1:n.356-5G>A
ENST00000595860.5:n.543-5G>A
ENST00000599334.1:c.237-154G>A
NM_020533.2:c.1360-5G>A NP_065394.1:n.1360-5G>A
NM_020533.3:c.1360-5G>A MANE Select NP_065394.1:n.1360-5G>A
Search 100 bp 5'
Search 100 bp 3'