Canonical Allele Identifier: CA9139054
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs192400551
ExAC: 19:7593954 G / T
gnomAD v2: 19-7593954-G-T
gnomAD v3: 19-7529068-G-T
gnomAD v4: 19-7529068-G-T
MyVariant Identifiers: chr19:g.7593954G>T (hg19) chr19:g.7529068G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529068G>T , CM000681.2:g.7529068G>T GRCh38
NC_000019.9:g.7593954G>T , CM000681.1:g.7593954G>T GRCh37
NC_000019.8:g.7499954G>T NCBI36
NG_015806.1:g.11459G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1135-33G>T MANE Select ENSP00000264079.5:n.1135-33G>T
ENST00000264079.10:c.1135-33G>T ENSP00000264079.5:n.1135-33G>T
ENST00000394321.9:n.1450-33G>T
ENST00000594692.1:n.98G>T
ENST00000595860.5:n.318-33G>T
ENST00000599334.1:c.12-33G>T
NM_020533.2:c.1135-33G>T NP_065394.1:n.1135-33G>T
NM_020533.3:c.1135-33G>T MANE Select NP_065394.1:n.1135-33G>T
Search 100 bp 5'
Search 100 bp 3'