Canonical Allele Identifier: CA403091895
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598539G>A (hg19) chr19:g.7533653G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533653G>A , CM000681.2:g.7533653G>A GRCh38
NC_000019.9:g.7598539G>A , CM000681.1:g.7598539G>A GRCh37
NC_000019.8:g.7504539G>A NCBI36
NG_013374.1:g.4502G>A
NG_015806.1:g.16044G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706G>A MANE Select ENSP00000264079.5:p.Arg569Lys
ENST00000264079.10:c.1706G>A ENSP00000264079.5:p.Arg569Lys
ENST00000394321.9:n.2021G>A
ENST00000599334.1:c.434G>A
ENST00000601870.1:c.59G>A
ENST00000602227.1:n.260G>A
NM_020533.2:c.1706G>A NP_065394.1:p.Arg569Lys
NM_020533.3:c.1706G>A MANE Select NP_065394.1:p.Arg569Lys
Search 100 bp 5'
Search 100 bp 3'