Canonical Allele Identifier: CA403152510
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1197659507
gnomAD v4: 19-7525017-C-T
MyVariant Identifiers: chr19:g.7589903C>T (hg19) chr19:g.7525017C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525017C>T , CM000681.2:g.7525017C>T GRCh38
NC_000019.9:g.7589903C>T , CM000681.1:g.7589903C>T GRCh37
NC_000019.8:g.7495903C>T NCBI36
NG_015806.1:g.7408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.88C>T MANE Select ENSP00000264079.5:p.Pro30Ser
ENST00000264079.10:c.88C>T ENSP00000264079.5:p.Pro30Ser
ENST00000394321.9:n.168C>T
ENST00000596390.1:n.204C>T
ENST00000601003.1:c.88C>T ENSP00000469074.1:p.Pro30Ser
NM_020533.2:c.88C>T NP_065394.1:p.Pro30Ser
NM_020533.3:c.88C>T MANE Select NP_065394.1:p.Pro30Ser
Search 100 bp 5'
Search 100 bp 3'