Canonical Allele Identifier: CA2587950502
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7534000-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534000T>C , CM000681.2:g.7534000T>C GRCh38
NC_000019.9:g.7598886T>C , CM000681.1:g.7598886T>C GRCh37
NC_000019.8:g.7504886T>C NCBI36
NG_013374.1:g.4849T>C
NG_015806.1:g.16391T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*205T>C MANE Select ENSP00000264079.5:n.*205T>C
ENST00000264079.10:c.*205T>C ENSP00000264079.5:n.*205T>C
ENST00000601870.1:c.169+132T>C
NM_020533.2:c.*205T>C NP_065394.1:n.*205T>C
NM_020533.3:c.*205T>C MANE Select NP_065394.1:n.*205T>C
Search 100 bp 5'
Search 100 bp 3'