Canonical Allele Identifier: CA5547472

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819760G>A , CM000672.2:g.71819760G>A	GRCh38
NC_000010.10:g.73579517G>A , CM000672.1:g.73579517G>A	GRCh37
NC_000010.9:g.73249523G>A	NCBI36
NG_009301.1:g.36566C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1146C>T MANE Select	NP_002769.1:p.Cys382=
ENST00000394936.8:c.1146C>T MANE Select	ENSP00000378394.3:p.Cys382=
NM_001042465.1:c.1155C>T	NP_001035930.1:p.Cys385=
NM_001042465.2:c.1155C>T	NP_001035930.1:p.Cys385=
NM_001042465.3:c.1155C>T	NP_001035930.1:p.Cys385=
NM_001042466.1:c.1152C>T	NP_001035931.1:p.Cys384=
NM_001042466.2:c.1152C>T	NP_001035931.1:p.Cys384=
NM_001042466.3:c.1152C>T	NP_001035931.1:p.Cys384=
NM_002778.2:c.1146C>T	NP_002769.1:p.Cys382=
NM_002778.3:c.1146C>T	NP_002769.1:p.Cys382=
ENST00000394934.4:c.1155C>T	ENSP00000378392.2:p.Cys385=
ENST00000394936.7:c.1146C>T	ENSP00000378394.3:p.Cys382=
ENST00000493143.1:n.567C>T
ENST00000610929.3:c.294C>T	ENSP00000480857.1:p.Cys98=