Canonical Allele Identifier: CA377156422

Gene: PSAP

Linked Data

• dbSNP Id: rs1171560441
• MyVariant Identifiers: chr10:g.73594263C>G (hg19) ; chr10:g.71834506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834506C>G , CM000672.2:g.71834506C>G	GRCh38
NC_000010.10:g.73594263C>G , CM000672.1:g.73594263C>G	GRCh37
NC_000010.9:g.73264269C>G	NCBI36
NG_009301.1:g.21820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-1G>C MANE Select	ENSP00000378394.3:n.41-1G>C
ENST00000394934.4:c.41-1G>C	ENSP00000378392.2:n.41-1G>C
ENST00000394936.7:c.41-1G>C	ENSP00000378394.3:n.41-1G>C
ENST00000610929.3:c.41-1G>C	ENSP00000480857.1:n.41-1G>C
NM_001042465.1:c.41-1G>C	NP_001035930.1:n.41-1G>C
NM_001042466.1:c.41-1G>C	NP_001035931.1:n.41-1G>C
NM_002778.2:c.41-1G>C	NP_002769.1:n.41-1G>C
NM_001042465.2:c.41-1G>C	NP_001035930.1:n.41-1G>C
NM_001042466.2:c.41-1G>C	NP_001035931.1:n.41-1G>C
NM_002778.3:c.41-1G>C	NP_002769.1:n.41-1G>C
NM_002778.4:c.41-1G>C MANE Select	NP_002769.1:n.41-1G>C
NM_001042465.3:c.41-1G>C	NP_001035930.1:n.41-1G>C
NM_001042466.3:c.41-1G>C	NP_001035931.1:n.41-1G>C