Canonical Allele Identifier: CA377155690

Gene: PSAP

Linked Data

• MyVariant Identifiers: chr10:g.73594131C>G (hg19) ; chr10:g.71834374C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834374C>G , CM000672.2:g.71834374C>G	GRCh38
NC_000010.10:g.73594131C>G , CM000672.1:g.73594131C>G	GRCh37
NC_000010.9:g.73264137C>G	NCBI36
NG_009301.1:g.21952G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394936.8:c.172G>C MANE Select	ENSP00000378394.3:p.Val58Leu
ENST00000394934.4:c.172G>C	ENSP00000378392.2:p.Val58Leu
ENST00000394936.7:c.172G>C	ENSP00000378394.3:p.Val58Leu
ENST00000610929.3:c.172G>C	ENSP00000480857.1:p.Val58Leu
NM_001042465.1:c.172G>C	NP_001035930.1:p.Val58Leu
NM_001042466.1:c.172G>C	NP_001035931.1:p.Val58Leu
NM_002778.2:c.172G>C	NP_002769.1:p.Val58Leu
NM_001042465.2:c.172G>C	NP_001035930.1:p.Val58Leu
NM_001042466.2:c.172G>C	NP_001035931.1:p.Val58Leu
NM_002778.3:c.172G>C	NP_002769.1:p.Val58Leu
NM_002778.4:c.172G>C MANE Select	NP_002769.1:p.Val58Leu
NM_001042465.3:c.172G>C	NP_001035930.1:p.Val58Leu
NM_001042466.3:c.172G>C	NP_001035931.1:p.Val58Leu