Canonical Allele Identifier: CA2567435841
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533377-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533377T>C , CM000681.2:g.7533377T>C GRCh38
NC_000019.9:g.7598263T>C , CM000681.1:g.7598263T>C GRCh37
NC_000019.8:g.7504263T>C NCBI36
NG_013374.1:g.4226T>C
NG_015806.1:g.15768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-146T>C MANE Select ENSP00000264079.5:n.1576-146T>C
ENST00000264079.10:c.1576-146T>C ENSP00000264079.5:n.1576-146T>C
ENST00000394321.9:n.1891-146T>C
ENST00000599334.1:c.304-146T>C
NM_020533.2:c.1576-146T>C NP_065394.1:n.1576-146T>C
NM_020533.3:c.1576-146T>C MANE Select NP_065394.1:n.1576-146T>C