Canonical Allele Identifier: CA2576596908
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526371T>C , CM000681.2:g.7526371T>C GRCh38
NC_000019.9:g.7591257T>C , CM000681.1:g.7591257T>C GRCh37
NC_000019.8:g.7497257T>C NCBI36
NG_015806.1:g.8762T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.238-68T>C MANE Select ENSP00000264079.5:n.238-68T>C
ENST00000264079.10:c.238-68T>C ENSP00000264079.5:n.238-68T>C
ENST00000394321.9:n.318-68T>C
ENST00000596008.1:n.132T>C
ENST00000601003.1:c.238-68T>C ENSP00000469074.1:n.238-68T>C
NM_020533.2:c.238-68T>C NP_065394.1:n.238-68T>C
NM_020533.3:c.238-68T>C MANE Select NP_065394.1:n.238-68T>C
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