Canonical Allele Identifier: CA2587948851
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529047-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529047G>A , CM000681.2:g.7529047G>A GRCh38
NC_000019.9:g.7593933G>A , CM000681.1:g.7593933G>A GRCh37
NC_000019.8:g.7499933G>A NCBI36
NG_015806.1:g.11438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1135-54G>A MANE Select ENSP00000264079.5:n.1135-54G>A
ENST00000264079.10:c.1135-54G>A ENSP00000264079.5:n.1135-54G>A
ENST00000394321.9:n.1450-54G>A
ENST00000594692.1:n.77G>A
ENST00000595860.5:n.318-54G>A
ENST00000599334.1:c.12-54G>A
NM_020533.2:c.1135-54G>A NP_065394.1:n.1135-54G>A
NM_020533.3:c.1135-54G>A MANE Select NP_065394.1:n.1135-54G>A
Search 100 bp 5'
Search 100 bp 3'