Canonical Allele Identifier: CA304853030
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs562566751
gnomAD v2: 19-7591978-T-G
gnomAD v3: 19-7527092-T-G
gnomAD v4: 19-7527092-T-G
MyVariant Identifiers: chr19:g.7591978T>G (hg19) chr19:g.7527092T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527092T>G , CM000681.2:g.7527092T>G GRCh38
NC_000019.9:g.7591978T>G , CM000681.1:g.7591978T>G GRCh37
NC_000019.8:g.7497978T>G NCBI36
NG_015806.1:g.9483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+166T>G MANE Select ENSP00000264079.5:n.571+166T>G
ENST00000264079.10:c.571+166T>G ENSP00000264079.5:n.571+166T>G
ENST00000394321.9:n.651+166T>G
ENST00000596008.1:n.699T>G
ENST00000598406.1:n.392+166T>G
ENST00000601003.1:c.571+166T>G ENSP00000469074.1:n.571+166T>G
NM_020533.2:c.571+166T>G NP_065394.1:n.571+166T>G
NM_020533.3:c.571+166T>G MANE Select NP_065394.1:n.571+166T>G
Search 100 bp 5'
Search 100 bp 3'