Canonical Allele Identifier: CA2587950479
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533965-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533965G>T , CM000681.2:g.7533965G>T GRCh38
NC_000019.9:g.7598851G>T , CM000681.1:g.7598851G>T GRCh37
NC_000019.8:g.7504851G>T NCBI36
NG_013374.1:g.4814G>T
NG_015806.1:g.16356G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*170G>T MANE Select ENSP00000264079.5:n.*170G>T
ENST00000264079.10:c.*170G>T ENSP00000264079.5:n.*170G>T
ENST00000394321.9:n.2228G>T
ENST00000599334.1:c.641G>T
ENST00000601870.1:c.169+97G>T
ENST00000602227.1:n.467G>T
NM_020533.2:c.*170G>T NP_065394.1:n.*170G>T
NM_020533.3:c.*170G>T MANE Select NP_065394.1:n.*170G>T
Search 100 bp 5'
Search 100 bp 3'