Canonical Allele Identifier: CA505231918
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022626854
MyVariant Identifiers: chr19:g.7594592T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529706T>C , CM000681.2:g.7529706T>C GRCh38
NC_000019.9:g.7594592T>C , CM000681.1:g.7594592T>C GRCh37
NC_000019.8:g.7500592T>C NCBI36
NG_013374.1:g.555T>C
NG_015806.1:g.12097T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1353T>C MANE Select ENSP00000264079.5:p.His451=
ENST00000264079.10:c.1353T>C ENSP00000264079.5:p.His451=
ENST00000394321.9:n.1668T>C
ENST00000594692.1:n.349T>C
ENST00000595860.5:n.536T>C
ENST00000599334.1:c.230T>C
NM_020533.2:c.1353T>C NP_065394.1:p.His451=
NM_020533.3:c.1353T>C MANE Select NP_065394.1:p.His451=
Search 100 bp 5'
Search 100 bp 3'