Canonical Allele Identifier: CA403082078
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022589560
MyVariant Identifiers: chr19:g.7592438C>T (hg19) chr19:g.7527552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527552C>T , CM000681.2:g.7527552C>T GRCh38
NC_000019.9:g.7592438C>T , CM000681.1:g.7592438C>T GRCh37
NC_000019.8:g.7498438C>T NCBI36
NG_015806.1:g.9943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.604C>T MANE Select ENSP00000264079.5:p.Pro202Ser
ENST00000264079.10:c.604C>T ENSP00000264079.5:p.Pro202Ser
ENST00000394321.9:n.684C>T
ENST00000598406.1:n.425C>T
ENST00000601003.1:c.572-312C>T ENSP00000469074.1:n.572-312C>T
NM_020533.2:c.604C>T NP_065394.1:p.Pro202Ser
NM_020533.3:c.604C>T MANE Select NP_065394.1:p.Pro202Ser
Search 100 bp 5'
Search 100 bp 3'