Canonical Allele Identifier: CA304853035
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs924949179
gnomAD v2: 19-7591998-G-C
gnomAD v3: 19-7527112-G-C
gnomAD v4: 19-7527112-G-C
MyVariant Identifiers: chr19:g.7591998G>C (hg19) chr19:g.7527112G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527112G>C , CM000681.2:g.7527112G>C GRCh38
NC_000019.9:g.7591998G>C , CM000681.1:g.7591998G>C GRCh37
NC_000019.8:g.7497998G>C NCBI36
NG_015806.1:g.9503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+186G>C MANE Select ENSP00000264079.5:n.571+186G>C
ENST00000264079.10:c.571+186G>C ENSP00000264079.5:n.571+186G>C
ENST00000394321.9:n.651+186G>C
ENST00000596008.1:n.719G>C
ENST00000598406.1:n.392+186G>C
ENST00000601003.1:c.571+186G>C ENSP00000469074.1:n.571+186G>C
NM_020533.2:c.571+186G>C NP_065394.1:n.571+186G>C
NM_020533.3:c.571+186G>C MANE Select NP_065394.1:n.571+186G>C
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