Canonical Allele Identifier: CA505230337
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592425C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527539C>G , CM000681.2:g.7527539C>G GRCh38
NC_000019.9:g.7592425C>G , CM000681.1:g.7592425C>G GRCh37
NC_000019.8:g.7498425C>G NCBI36
NG_015806.1:g.9930C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.591C>G MANE Select ENSP00000264079.5:p.Pro197=
ENST00000264079.10:c.591C>G ENSP00000264079.5:p.Pro197=
ENST00000394321.9:n.671C>G
ENST00000598406.1:n.412C>G
ENST00000601003.1:c.572-325C>G ENSP00000469074.1:n.572-325C>G
NM_020533.2:c.591C>G NP_065394.1:p.Pro197=
NM_020533.3:c.591C>G MANE Select NP_065394.1:p.Pro197=
Search 100 bp 5'
Search 100 bp 3'