Canonical Allele Identifier: CA2320963768
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022636741
gnomAD v4: 19-7530283-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530283C>A , CM000681.2:g.7530283C>A GRCh38
NC_000019.9:g.7595169C>A , CM000681.1:g.7595169C>A GRCh37
NC_000019.8:g.7501169C>A NCBI36
NG_013374.1:g.1132C>A
NG_015806.1:g.12674C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-3C>A MANE Select ENSP00000264079.5:n.1360-3C>A
ENST00000264079.10:c.1360-3C>A ENSP00000264079.5:n.1360-3C>A
ENST00000394321.9:n.1675-3C>A
ENST00000594692.1:n.356-3C>A
ENST00000595860.5:n.543-3C>A
ENST00000599334.1:c.237-152C>A
NM_020533.2:c.1360-3C>A NP_065394.1:n.1360-3C>A
NM_020533.3:c.1360-3C>A MANE Select NP_065394.1:n.1360-3C>A
Search 100 bp 5'
Search 100 bp 3'