Canonical Allele Identifier: CA9138720
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs199941032
ExAC: 19:7591534 G / C
gnomAD v2: 19-7591534-G-C
gnomAD v3: 19-7526648-G-C
gnomAD v4: 19-7526648-G-C
MyVariant Identifiers: chr19:g.7591534G>C (hg19) chr19:g.7526648G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526648G>C , CM000681.2:g.7526648G>C GRCh38
NC_000019.9:g.7591534G>C , CM000681.1:g.7591534G>C GRCh37
NC_000019.8:g.7497534G>C NCBI36
NG_015806.1:g.9039G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.405+42G>C MANE Select ENSP00000264079.5:n.405+42G>C
ENST00000264079.10:c.405+42G>C ENSP00000264079.5:n.405+42G>C
ENST00000394321.9:n.485+42G>C
ENST00000596008.1:n.367+42G>C
ENST00000598406.1:n.226+42G>C
ENST00000601003.1:c.405+42G>C ENSP00000469074.1:n.405+42G>C
NM_020533.2:c.405+42G>C NP_065394.1:n.405+42G>C
NM_020533.3:c.405+42G>C MANE Select NP_065394.1:n.405+42G>C
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