Canonical Allele Identifier: CA2587950503
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7534001-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534001T>G , CM000681.2:g.7534001T>G GRCh38
NC_000019.9:g.7598887T>G , CM000681.1:g.7598887T>G GRCh37
NC_000019.8:g.7504887T>G NCBI36
NG_013374.1:g.4850T>G
NG_015806.1:g.16392T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*206T>G MANE Select ENSP00000264079.5:n.*206T>G
ENST00000264079.10:c.*206T>G ENSP00000264079.5:n.*206T>G
ENST00000601870.1:c.169+133T>G
NM_020533.2:c.*206T>G NP_065394.1:n.*206T>G
NM_020533.3:c.*206T>G MANE Select NP_065394.1:n.*206T>G
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Search 100 bp 3'