Canonical Allele Identifier: CA403081146
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591648A>T (hg19) chr19:g.7526762A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526762A>T , CM000681.2:g.7526762A>T GRCh38
NC_000019.9:g.7591648A>T , CM000681.1:g.7591648A>T GRCh37
NC_000019.8:g.7497648A>T NCBI36
NG_015806.1:g.9153A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.407A>T MANE Select ENSP00000264079.5:p.Tyr136Phe
ENST00000264079.10:c.407A>T ENSP00000264079.5:p.Tyr136Phe
ENST00000394321.9:n.487A>T
ENST00000596008.1:n.369A>T
ENST00000598406.1:n.228A>T
ENST00000601003.1:c.407A>T ENSP00000469074.1:p.Tyr136Phe
NM_020533.2:c.407A>T NP_065394.1:p.Tyr136Phe
NM_020533.3:c.407A>T MANE Select NP_065394.1:p.Tyr136Phe
Search 100 bp 5'
Search 100 bp 3'