Canonical Allele Identifier: CA304856898
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs145386711
gnomAD v3: 19-7533314-G-T
gnomAD v4: 19-7533314-G-T
MyVariant Identifiers: chr19:g.7598200G>T (hg19) chr19:g.7533314G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533314G>T , CM000681.2:g.7533314G>T GRCh38
NC_000019.9:g.7598200G>T , CM000681.1:g.7598200G>T GRCh37
NC_000019.8:g.7504200G>T NCBI36
NG_013374.1:g.4163G>T
NG_015806.1:g.15705G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-209G>T MANE Select ENSP00000264079.5:n.1576-209G>T
ENST00000264079.10:c.1576-209G>T ENSP00000264079.5:n.1576-209G>T
ENST00000394321.9:n.1891-209G>T
ENST00000599334.1:c.304-209G>T
NM_020533.2:c.1576-209G>T NP_065394.1:n.1576-209G>T
NM_020533.3:c.1576-209G>T MANE Select NP_065394.1:n.1576-209G>T
Search 100 bp 5'
Search 100 bp 3'