Canonical Allele Identifier: CA631319319
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1364981116
gnomAD v2: 19-7598013-G-T
gnomAD v3: 19-7533127-G-T
gnomAD v4: 19-7533127-G-T
MyVariant Identifiers: chr19:g.7598013G>T (hg19) chr19:g.7533127G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533127G>T , CM000681.2:g.7533127G>T GRCh38
NC_000019.9:g.7598013G>T , CM000681.1:g.7598013G>T GRCh37
NC_000019.8:g.7504013G>T NCBI36
NG_013374.1:g.3976G>T
NG_015806.1:g.15518G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-396G>T MANE Select ENSP00000264079.5:n.1576-396G>T
ENST00000264079.10:c.1576-396G>T ENSP00000264079.5:n.1576-396G>T
ENST00000394321.9:n.1891-396G>T
ENST00000599334.1:c.304-396G>T
NM_020533.2:c.1576-396G>T NP_065394.1:n.1576-396G>T
NM_020533.3:c.1576-396G>T MANE Select NP_065394.1:n.1576-396G>T
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