Canonical Allele Identifier: CA508201023

Linked Data

MyVariant Identifiers: chr19:g.51295032G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791775G>C , CM000681.2:g.50791775G>C GRCh38
NC_000019.9:g.51295032G>C , CM000681.1:g.51295032G>C GRCh37
NC_000019.8:g.55986844G>C NCBI36
NG_052652.1:g.6361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.423G>C (ACP4) MANE Select ENSP00000270593.1:p.Val141=
ENST00000636757.1:c.-60+630C>G (SMIM47) ENSP00000489695.1:n.-60+630C>G
ENST00000270593.1:c.423G>C (ACP4) ENSP00000270593.1:p.Val141=
NM_033068.2:c.423G>C (ACP4) NP_149059.1:p.Val141=
XR_936026.1:n.424+630C>G
XR_936026.2:n.434+630C>G
NM_033068.3:c.423G>C (ACP4) MANE Select NP_149059.1:p.Val141=