Canonical Allele Identifier: CA2320965038
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533178A= , CM000681.2:g.7533178A= GRCh38
NC_000019.9:g.7598064A= , CM000681.1:g.7598064A= GRCh37
NC_000019.8:g.7504064A= NCBI36
NG_013374.1:g.4027A=
NG_015806.1:g.15569A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-345A= MANE Select ENSP00000264079.5:n.1576-345A=
ENST00000264079.10:c.1576-345A= ENSP00000264079.5:n.1576-345A=
ENST00000394321.9:n.1891-345A=
ENST00000599334.1:c.304-345A=
NM_020533.2:c.1576-345A= NP_065394.1:n.1576-345A=
NM_020533.3:c.1576-345A= MANE Select NP_065394.1:n.1576-345A=