Canonical Allele Identifier: CA2320965550
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533791A= , CM000681.2:g.7533791A= GRCh38
NC_000019.9:g.7598677A= , CM000681.1:g.7598677A= GRCh37
NC_000019.8:g.7504677A= NCBI36
NG_013374.1:g.4640A=
NG_015806.1:g.16182A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1739A= MANE Select ENSP00000264079.5:p.Asn580=
ENST00000264079.10:c.1739A= ENSP00000264079.5:p.Asn580=
ENST00000394321.9:n.2054A=
ENST00000599334.1:c.467A=
ENST00000601870.1:c.92A=
ENST00000602227.1:n.293A=
NM_020533.2:c.1739A= NP_065394.1:p.Asn580=
NM_020533.3:c.1739A= MANE Select NP_065394.1:p.Asn580=