Canonical Allele Identifier: CA2320963726
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530184A= , CM000681.2:g.7530184A= GRCh38
NC_000019.9:g.7595070A= , CM000681.1:g.7595070A= GRCh37
NC_000019.8:g.7501070A= NCBI36
NG_013374.1:g.1033A=
NG_015806.1:g.12575A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-102A= MANE Select ENSP00000264079.5:n.1360-102A=
ENST00000264079.10:c.1360-102A= ENSP00000264079.5:n.1360-102A=
ENST00000394321.9:n.1675-102A=
ENST00000594692.1:n.356-102A=
ENST00000595860.5:n.543-102A=
ENST00000599334.1:c.237-251A=
NM_020533.2:c.1360-102A= NP_065394.1:n.1360-102A=
NM_020533.3:c.1360-102A= MANE Select NP_065394.1:n.1360-102A=