Canonical Allele Identifier: CA304858551

Gene: MCOLN1

Linked Data

• dbSNP Id: rs373527173
• gnomAD v4: 19-7533948-G-T
• MyVariant Identifiers: chr19:g.7598834G>T (hg19) ; chr19:g.7533948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533948G>T , CM000681.2:g.7533948G>T	GRCh38
NC_000019.9:g.7598834G>T , CM000681.1:g.7598834G>T	GRCh37
NC_000019.8:g.7504834G>T	NCBI36
NG_013374.1:g.4797G>T
NG_015806.1:g.16339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*153G>T MANE Select	ENSP00000264079.5:n.*153G>T
ENST00000264079.10:c.*153G>T	ENSP00000264079.5:n.*153G>T
ENST00000394321.9:n.2211G>T
ENST00000599334.1:c.624G>T
ENST00000601870.1:c.169+80G>T
ENST00000602227.1:n.450G>T
NM_020533.2:c.*153G>T	NP_065394.1:n.*153G>T
NM_020533.3:c.*153G>T MANE Select	NP_065394.1:n.*153G>T