Canonical Allele Identifier: CA2320961863
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526623A= , CM000681.2:g.7526623A= GRCh38
NC_000019.9:g.7591509A= , CM000681.1:g.7591509A= GRCh37
NC_000019.8:g.7497509A= NCBI36
NG_015806.1:g.9014A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+17A= MANE Select ENSP00000264079.5:n.405+17A=
ENST00000264079.10:c.405+17A= ENSP00000264079.5:n.405+17A=
ENST00000394321.9:n.485+17A=
ENST00000596008.1:n.367+17A=
ENST00000598406.1:n.226+17A=
ENST00000601003.1:c.405+17A= ENSP00000469074.1:n.405+17A=
NM_020533.2:c.405+17A= NP_065394.1:n.405+17A=
NM_020533.3:c.405+17A= MANE Select NP_065394.1:n.405+17A=
Search 100 bp 5'
Search 100 bp 3'