Canonical Allele Identifier: CA403087009
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7594068A>G (hg19) chr19:g.7529182A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529182A>G , CM000681.2:g.7529182A>G GRCh38
NC_000019.9:g.7594068A>G , CM000681.1:g.7594068A>G GRCh37
NC_000019.8:g.7500068A>G NCBI36
NG_013374.1:g.31A>G
NG_015806.1:g.11573A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1216A>G MANE Select ENSP00000264079.5:p.Thr406Ala
ENST00000264079.10:c.1216A>G ENSP00000264079.5:p.Thr406Ala
ENST00000394321.9:n.1531A>G
ENST00000594692.1:n.212A>G
ENST00000595860.5:n.399A>G
ENST00000599334.1:c.93A>G
NM_020533.2:c.1216A>G NP_065394.1:p.Thr406Ala
NM_020533.3:c.1216A>G MANE Select NP_065394.1:p.Thr406Ala
Search 100 bp 5'
Search 100 bp 3'