Canonical Allele Identifier: CA2739637834
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527713T>A , CM000681.2:g.7527713T>A GRCh38
NC_000019.9:g.7592599T>A , CM000681.1:g.7592599T>A GRCh37
NC_000019.8:g.7498599T>A NCBI36
NG_015806.1:g.10104T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+85T>A MANE Select ENSP00000264079.5:n.680+85T>A
ENST00000264079.10:c.680+85T>A ENSP00000264079.5:n.680+85T>A
ENST00000394321.9:n.845T>A
ENST00000598406.1:n.586T>A
ENST00000601003.1:c.572-151T>A ENSP00000469074.1:n.572-151T>A
NM_020533.2:c.680+85T>A NP_065394.1:n.680+85T>A
NM_020533.3:c.680+85T>A MANE Select NP_065394.1:n.680+85T>A
Search 100 bp 5'
Search 100 bp 3'