Canonical Allele Identifier: CA304853387
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs377681899
gnomAD v4: 19-7527570-G-C
MyVariant Identifiers: chr19:g.7592456G>C (hg19) chr19:g.7527570G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527570G>C , CM000681.2:g.7527570G>C GRCh38
NC_000019.9:g.7592456G>C , CM000681.1:g.7592456G>C GRCh37
NC_000019.8:g.7498456G>C NCBI36
NG_015806.1:g.9961G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.622G>C MANE Select ENSP00000264079.5:p.Asp208His
ENST00000264079.10:c.622G>C ENSP00000264079.5:p.Asp208His
ENST00000394321.9:n.702G>C
ENST00000598406.1:n.443G>C
ENST00000601003.1:c.572-294G>C ENSP00000469074.1:n.572-294G>C
NM_020533.2:c.622G>C NP_065394.1:p.Asp208His
NM_020533.3:c.622G>C MANE Select NP_065394.1:p.Asp208His
Search 100 bp 5'
Search 100 bp 3'