Canonical Allele Identifier: CA377155705

Gene: PSAP

Linked Data

• MyVariant Identifiers: chr10:g.73594136G>A (hg19) ; chr10:g.71834379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834379G>A , CM000672.2:g.71834379G>A	GRCh38
NC_000010.10:g.73594136G>A , CM000672.1:g.73594136G>A	GRCh37
NC_000010.9:g.73264142G>A	NCBI36
NG_009301.1:g.21947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394936.8:c.167C>T MANE Select	ENSP00000378394.3:p.Pro56Leu
ENST00000394934.4:c.167C>T	ENSP00000378392.2:p.Pro56Leu
ENST00000394936.7:c.167C>T	ENSP00000378394.3:p.Pro56Leu
ENST00000610929.3:c.167C>T	ENSP00000480857.1:p.Pro56Leu
NM_001042465.1:c.167C>T	NP_001035930.1:p.Pro56Leu
NM_001042466.1:c.167C>T	NP_001035931.1:p.Pro56Leu
NM_002778.2:c.167C>T	NP_002769.1:p.Pro56Leu
NM_001042465.2:c.167C>T	NP_001035930.1:p.Pro56Leu
NM_001042466.2:c.167C>T	NP_001035931.1:p.Pro56Leu
NM_002778.3:c.167C>T	NP_002769.1:p.Pro56Leu
NM_002778.4:c.167C>T MANE Select	NP_002769.1:p.Pro56Leu
NM_001042465.3:c.167C>T	NP_001035930.1:p.Pro56Leu
NM_001042466.3:c.167C>T	NP_001035931.1:p.Pro56Leu