Canonical Allele Identifier: CA882709554
Gene: MARK4 HGNC NCBI
BLOC1S3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45205630T>G , CM000681.2:g.45205630T>G GRCh38
NC_000019.9:g.45708888T>G , CM000681.1:g.45708888T>G GRCh37
NC_000019.8:g.50400728T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000591569.1:n.282+3123T>G
ENST00000587566.5:c.-276-53359T>G (MARK4) ENSP00000465414.1:n.-276-53359T>G
XR_935826.1:n.1517+3123T>G (BLOC1S3)
XR_935827.1:n.1517+3123T>G (BLOC1S3)
XR_935829.1:n.1489+3123T>G (BLOC1S3)