Canonical Allele Identifier: CA2320965591
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022714046
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533851G>T , CM000681.2:g.7533851G>T GRCh38
NC_000019.9:g.7598737G>T , CM000681.1:g.7598737G>T GRCh37
NC_000019.8:g.7504737G>T NCBI36
NG_013374.1:g.4700G>T
NG_015806.1:g.16242G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*56G>T MANE Select ENSP00000264079.5:n.*56G>T
ENST00000264079.10:c.*56G>T ENSP00000264079.5:n.*56G>T
ENST00000394321.9:n.2114G>T
ENST00000599334.1:c.527G>T
ENST00000601870.1:c.152G>T
ENST00000602227.1:n.353G>T
NM_020533.2:c.*56G>T NP_065394.1:n.*56G>T
NM_020533.3:c.*56G>T MANE Select NP_065394.1:n.*56G>T
Search 100 bp 5'
Search 100 bp 3'