Canonical Allele Identifier: CA403091512
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598460C>A (hg19) chr19:g.7533574C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533574C>A , CM000681.2:g.7533574C>A GRCh38
NC_000019.9:g.7598460C>A , CM000681.1:g.7598460C>A GRCh37
NC_000019.8:g.7504460C>A NCBI36
NG_013374.1:g.4423C>A
NG_015806.1:g.15965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1627C>A MANE Select ENSP00000264079.5:p.Gln543Lys
ENST00000264079.10:c.1627C>A ENSP00000264079.5:p.Gln543Lys
ENST00000394321.9:n.1942C>A
ENST00000599334.1:c.355C>A
ENST00000602227.1:n.181C>A
NM_020533.2:c.1627C>A NP_065394.1:p.Gln543Lys
NM_020533.3:c.1627C>A MANE Select NP_065394.1:p.Gln543Lys
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