Canonical Allele Identifier: CA403153001
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1354785620
gnomAD v2: 19-7590038-G-A
gnomAD v4: 19-7525152-G-A
MyVariant Identifiers: chr19:g.7590038G>A (hg19) chr19:g.7525152G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525152G>A , CM000681.2:g.7525152G>A GRCh38
NC_000019.9:g.7590038G>A , CM000681.1:g.7590038G>A GRCh37
NC_000019.8:g.7496038G>A NCBI36
NG_015806.1:g.7543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.223G>A MANE Select ENSP00000264079.5:p.Val75Met
ENST00000264079.10:c.223G>A ENSP00000264079.5:p.Val75Met
ENST00000394321.9:n.303G>A
ENST00000596390.1:n.339G>A
ENST00000601003.1:c.223G>A ENSP00000469074.1:p.Val75Met
NM_020533.2:c.223G>A NP_065394.1:p.Val75Met
NM_020533.3:c.223G>A MANE Select NP_065394.1:p.Val75Met
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Search 100 bp 3'