Canonical Allele Identifier: CA2576596919
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526641A>T , CM000681.2:g.7526641A>T GRCh38
NC_000019.9:g.7591527A>T , CM000681.1:g.7591527A>T GRCh37
NC_000019.8:g.7497527A>T NCBI36
NG_015806.1:g.9032A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+35A>T MANE Select ENSP00000264079.5:n.405+35A>T
ENST00000264079.10:c.405+35A>T ENSP00000264079.5:n.405+35A>T
ENST00000394321.9:n.485+35A>T
ENST00000596008.1:n.367+35A>T
ENST00000598406.1:n.226+35A>T
ENST00000601003.1:c.405+35A>T ENSP00000469074.1:n.405+35A>T
NM_020533.2:c.405+35A>T NP_065394.1:n.405+35A>T
NM_020533.3:c.405+35A>T MANE Select NP_065394.1:n.405+35A>T
Search 100 bp 5'
Search 100 bp 3'