Canonical Allele Identifier: CA403152824
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589979A>T (hg19) chr19:g.7525093A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525093A>T , CM000681.2:g.7525093A>T GRCh38
NC_000019.9:g.7589979A>T , CM000681.1:g.7589979A>T GRCh37
NC_000019.8:g.7495979A>T NCBI36
NG_015806.1:g.7484A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.164A>T MANE Select ENSP00000264079.5:p.Lys55Met
ENST00000264079.10:c.164A>T ENSP00000264079.5:p.Lys55Met
ENST00000394321.9:n.244A>T
ENST00000596390.1:n.280A>T
ENST00000601003.1:c.164A>T ENSP00000469074.1:p.Lys55Met
NM_020533.2:c.164A>T NP_065394.1:p.Lys55Met
NM_020533.3:c.164A>T MANE Select NP_065394.1:p.Lys55Met
Search 100 bp 5'
Search 100 bp 3'