Canonical Allele Identifier: CA403081499
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591742G>C (hg19) chr19:g.7526856G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526856G>C , CM000681.2:g.7526856G>C GRCh38
NC_000019.9:g.7591742G>C , CM000681.1:g.7591742G>C GRCh37
NC_000019.8:g.7497742G>C NCBI36
NG_015806.1:g.9247G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.501G>C MANE Select ENSP00000264079.5:p.Gln167His
ENST00000264079.10:c.501G>C ENSP00000264079.5:p.Gln167His
ENST00000394321.9:n.581G>C
ENST00000596008.1:n.463G>C
ENST00000598406.1:n.322G>C
ENST00000601003.1:c.501G>C ENSP00000469074.1:p.Gln167His
NM_020533.2:c.501G>C NP_065394.1:p.Gln167His
NM_020533.3:c.501G>C MANE Select NP_065394.1:p.Gln167His
Search 100 bp 5'
Search 100 bp 3'