Canonical Allele Identifier: CA377155726

Gene: PSAP

Linked Data

• gnomAD v4: 10-71834383-T-G
• MyVariant Identifiers: chr10:g.73594140T>G (hg19) ; chr10:g.71834383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834383T>G , CM000672.2:g.71834383T>G	GRCh38
NC_000010.10:g.73594140T>G , CM000672.1:g.73594140T>G	GRCh37
NC_000010.9:g.73264146T>G	NCBI36
NG_009301.1:g.21943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.163A>C MANE Select	ENSP00000378394.3:p.Lys55Gln
ENST00000394934.4:c.163A>C	ENSP00000378392.2:p.Lys55Gln
ENST00000394936.7:c.163A>C	ENSP00000378394.3:p.Lys55Gln
ENST00000610929.3:c.163A>C	ENSP00000480857.1:p.Lys55Gln
NM_001042465.1:c.163A>C	NP_001035930.1:p.Lys55Gln
NM_001042466.1:c.163A>C	NP_001035931.1:p.Lys55Gln
NM_002778.2:c.163A>C	NP_002769.1:p.Lys55Gln
NM_001042465.2:c.163A>C	NP_001035930.1:p.Lys55Gln
NM_001042466.2:c.163A>C	NP_001035931.1:p.Lys55Gln
NM_002778.3:c.163A>C	NP_002769.1:p.Lys55Gln
NM_002778.4:c.163A>C MANE Select	NP_002769.1:p.Lys55Gln
NM_001042465.3:c.163A>C	NP_001035930.1:p.Lys55Gln
NM_001042466.3:c.163A>C	NP_001035931.1:p.Lys55Gln