Canonical Allele Identifier: CA5547431

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819618G>A , CM000672.2:g.71819618G>A	GRCh38
NC_000010.10:g.73579375G>A , CM000672.1:g.73579375G>A	GRCh37
NC_000010.9:g.73249381G>A	NCBI36
NG_009301.1:g.36708C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1197C>T MANE Select	NP_002769.1:p.His399=
ENST00000394936.8:c.1197C>T MANE Select	ENSP00000378394.3:p.His399=
NM_001042465.1:c.1206C>T	NP_001035930.1:p.His402=
NM_001042465.2:c.1206C>T	NP_001035930.1:p.His402=
NM_001042465.3:c.1206C>T	NP_001035930.1:p.His402=
NM_001042466.1:c.1203C>T	NP_001035931.1:p.His401=
NM_001042466.2:c.1203C>T	NP_001035931.1:p.His401=
NM_001042466.3:c.1203C>T	NP_001035931.1:p.His401=
NM_002778.2:c.1197C>T	NP_002769.1:p.His399=
NM_002778.3:c.1197C>T	NP_002769.1:p.His399=
ENST00000394934.4:c.1206C>T	ENSP00000378392.2:p.His402=
ENST00000394936.7:c.1197C>T	ENSP00000378394.3:p.His399=
ENST00000610929.3:c.345C>T	ENSP00000480857.1:p.His115=