Canonical Allele Identifier: CA403152769
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022549106
MyVariant Identifiers: chr19:g.7589967G>C (hg19) chr19:g.7525081G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525081G>C , CM000681.2:g.7525081G>C GRCh38
NC_000019.9:g.7589967G>C , CM000681.1:g.7589967G>C GRCh37
NC_000019.8:g.7495967G>C NCBI36
NG_015806.1:g.7472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.152G>C MANE Select ENSP00000264079.5:p.Ser51Thr
ENST00000264079.10:c.152G>C ENSP00000264079.5:p.Ser51Thr
ENST00000394321.9:n.232G>C
ENST00000596390.1:n.268G>C
ENST00000601003.1:c.152G>C ENSP00000469074.1:p.Ser51Thr
NM_020533.2:c.152G>C NP_065394.1:p.Ser51Thr
NM_020533.3:c.152G>C MANE Select NP_065394.1:p.Ser51Thr
Search 100 bp 5'
Search 100 bp 3'