Canonical Allele Identifier: CA505230744
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1454144496
gnomAD v2: 19-7592804-C-T
gnomAD v4: 19-7527918-C-T
MyVariant Identifiers: chr19:g.7592804C>T (hg19) chr19:g.7527918C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527918C>T , CM000681.2:g.7527918C>T GRCh38
NC_000019.9:g.7592804C>T , CM000681.1:g.7592804C>T GRCh37
NC_000019.8:g.7498804C>T NCBI36
NG_015806.1:g.10309C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.735C>T MANE Select ENSP00000264079.5:p.Leu245=
ENST00000264079.10:c.735C>T ENSP00000264079.5:p.Leu245=
ENST00000394321.9:n.1050C>T
NM_020533.2:c.735C>T NP_065394.1:p.Leu245=
NM_020533.3:c.735C>T MANE Select NP_065394.1:p.Leu245=
Search 100 bp 5'
Search 100 bp 3'