Canonical Allele Identifier: CA2739637830
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527711G>C , CM000681.2:g.7527711G>C GRCh38
NC_000019.9:g.7592597G>C , CM000681.1:g.7592597G>C GRCh37
NC_000019.8:g.7498597G>C NCBI36
NG_015806.1:g.10102G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+83G>C MANE Select ENSP00000264079.5:n.680+83G>C
ENST00000264079.10:c.680+83G>C ENSP00000264079.5:n.680+83G>C
ENST00000394321.9:n.843G>C
ENST00000598406.1:n.584G>C
ENST00000601003.1:c.572-153G>C ENSP00000469074.1:n.572-153G>C
NM_020533.2:c.680+83G>C NP_065394.1:n.680+83G>C
NM_020533.3:c.680+83G>C MANE Select NP_065394.1:n.680+83G>C
Search 100 bp 5'
Search 100 bp 3'