Canonical Allele Identifier: CA9603108

Gene: ACP4

Linked Data

• ClinVar Variation Id: 374862
• ClinVar RCV Id: RCV000415604 ; RCV001643139
• dbSNP Id: rs763573828
• ExAC: 19:51297008 C / T
• gnomAD v2: 19-51297008-C-T
• gnomAD v4: 19-50793751-C-T
• MyVariant Identifiers: chr19:g.51297008C>T (hg19) ; chr19:g.50793751C>T (hg38)
• PubMed: PMID:27843125

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50793751C>T , CM000681.2:g.50793751C>T	GRCh38
NC_000019.9:g.51297008C>T , CM000681.1:g.51297008C>T	GRCh37
NC_000019.8:g.55988820C>T	NCBI36
NG_052652.1:g.8337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.713C>T MANE Select	ENSP00000270593.1:p.Ser238Leu
ENST00000270593.1:c.713C>T	ENSP00000270593.1:p.Ser238Leu
NM_033068.2:c.713C>T	NP_149059.1:p.Ser238Leu
NM_033068.3:c.713C>T MANE Select	NP_149059.1:p.Ser238Leu