Canonical Allele Identifier: CA9139208
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs751331292
ExAC: 19:7598466 C / T
gnomAD v2: 19-7598466-C-T
MyVariant Identifiers: chr19:g.7598466C>T (hg19) chr19:g.7533580C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533580C>T , CM000681.2:g.7533580C>T GRCh38
NC_000019.9:g.7598466C>T , CM000681.1:g.7598466C>T GRCh37
NC_000019.8:g.7504466C>T NCBI36
NG_013374.1:g.4429C>T
NG_015806.1:g.15971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1633C>T MANE Select ENSP00000264079.5:p.Gln545Ter
ENST00000264079.10:c.1633C>T ENSP00000264079.5:p.Gln545Ter
ENST00000394321.9:n.1948C>T
ENST00000599334.1:c.361C>T
ENST00000602227.1:n.187C>T
NM_020533.2:c.1633C>T NP_065394.1:p.Gln545Ter
NM_020533.3:c.1633C>T MANE Select NP_065394.1:p.Gln545Ter
Search 100 bp 5'
Search 100 bp 3'