Canonical Allele Identifier: CA2587950426
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533910-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533910G>T , CM000681.2:g.7533910G>T GRCh38
NC_000019.9:g.7598796G>T , CM000681.1:g.7598796G>T GRCh37
NC_000019.8:g.7504796G>T NCBI36
NG_013374.1:g.4759G>T
NG_015806.1:g.16301G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*115G>T MANE Select ENSP00000264079.5:n.*115G>T
ENST00000264079.10:c.*115G>T ENSP00000264079.5:n.*115G>T
ENST00000394321.9:n.2173G>T
ENST00000599334.1:c.586G>T
ENST00000601870.1:c.169+42G>T
ENST00000602227.1:n.412G>T
NM_020533.2:c.*115G>T NP_065394.1:n.*115G>T
NM_020533.3:c.*115G>T MANE Select NP_065394.1:n.*115G>T
Search 100 bp 5'
Search 100 bp 3'