Canonical Allele Identifier: CA2735602424
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146031134
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533999T>G , CM000681.2:g.7533999T>G GRCh38
NC_000019.9:g.7598885T>G , CM000681.1:g.7598885T>G GRCh37
NC_000019.8:g.7504885T>G NCBI36
NG_013374.1:g.4848T>G
NG_015806.1:g.16390T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*204T>G MANE Select ENSP00000264079.5:n.*204T>G
ENST00000264079.10:c.*204T>G ENSP00000264079.5:n.*204T>G
ENST00000601870.1:c.169+131T>G
NM_020533.2:c.*204T>G NP_065394.1:n.*204T>G
NM_020533.3:c.*204T>G MANE Select NP_065394.1:n.*204T>G
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