Canonical Allele Identifier: CA2587950443
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533928-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533928G>T , CM000681.2:g.7533928G>T GRCh38
NC_000019.9:g.7598814G>T , CM000681.1:g.7598814G>T GRCh37
NC_000019.8:g.7504814G>T NCBI36
NG_013374.1:g.4777G>T
NG_015806.1:g.16319G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*133G>T MANE Select ENSP00000264079.5:n.*133G>T
ENST00000264079.10:c.*133G>T ENSP00000264079.5:n.*133G>T
ENST00000394321.9:n.2191G>T
ENST00000599334.1:c.604G>T
ENST00000601870.1:c.169+60G>T
ENST00000602227.1:n.430G>T
NM_020533.2:c.*133G>T NP_065394.1:n.*133G>T
NM_020533.3:c.*133G>T MANE Select NP_065394.1:n.*133G>T
Search 100 bp 5'
Search 100 bp 3'