Canonical Allele Identifier: CA403086587
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593993G>C (hg19) chr19:g.7529107G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529107G>C , CM000681.2:g.7529107G>C GRCh38
NC_000019.9:g.7593993G>C , CM000681.1:g.7593993G>C GRCh37
NC_000019.8:g.7499993G>C NCBI36
NG_015806.1:g.11498G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1141G>C MANE Select ENSP00000264079.5:p.Ala381Pro
ENST00000264079.10:c.1141G>C ENSP00000264079.5:p.Ala381Pro
ENST00000394321.9:n.1456G>C
ENST00000594692.1:n.137G>C
ENST00000595860.5:n.324G>C
ENST00000599334.1:c.18G>C
NM_020533.2:c.1141G>C NP_065394.1:p.Ala381Pro
NM_020533.3:c.1141G>C MANE Select NP_065394.1:p.Ala381Pro
Search 100 bp 5'
Search 100 bp 3'