Canonical Allele Identifier: CA470061832
Gene: PSAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73594168C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834411C>A , CM000672.2:g.71834411C>A GRCh38
NC_000010.10:g.73594168C>A , CM000672.1:g.73594168C>A GRCh37
NC_000010.9:g.73264174C>A NCBI36
NG_009301.1:g.21915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.135G>T MANE Select ENSP00000378394.3:p.Val45=
ENST00000394934.4:c.135G>T ENSP00000378392.2:p.Val45=
ENST00000394936.7:c.135G>T ENSP00000378394.3:p.Val45=
ENST00000610929.3:c.135G>T ENSP00000480857.1:p.Val45=
NM_001042465.1:c.135G>T NP_001035930.1:p.Val45=
NM_001042466.1:c.135G>T NP_001035931.1:p.Val45=
NM_002778.2:c.135G>T NP_002769.1:p.Val45=
NM_001042465.2:c.135G>T NP_001035930.1:p.Val45=
NM_001042466.2:c.135G>T NP_001035931.1:p.Val45=
NM_002778.3:c.135G>T NP_002769.1:p.Val45=
NM_002778.4:c.135G>T MANE Select NP_002769.1:p.Val45=
NM_001042465.3:c.135G>T NP_001035930.1:p.Val45=
NM_001042466.3:c.135G>T NP_001035931.1:p.Val45=