Canonical Allele Identifier: CA2587950134

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533259-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533259C>T , CM000681.2:g.7533259C>T	GRCh38
NC_000019.9:g.7598145C>T , CM000681.1:g.7598145C>T	GRCh37
NC_000019.8:g.7504145C>T	NCBI36
NG_013374.1:g.4108C>T
NG_015806.1:g.15650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-264C>T MANE Select	ENSP00000264079.5:n.1576-264C>T
ENST00000264079.10:c.1576-264C>T	ENSP00000264079.5:n.1576-264C>T
ENST00000394321.9:n.1891-264C>T
ENST00000599334.1:c.304-264C>T
NM_020533.2:c.1576-264C>T	NP_065394.1:n.1576-264C>T
NM_020533.3:c.1576-264C>T MANE Select	NP_065394.1:n.1576-264C>T