Canonical Allele Identifier: CA209471640

Gene: PSAP

Linked Data

• dbSNP Id: rs991157097
• gnomAD v4: 10-71834273-C-A
• MyVariant Identifiers: chr10:g.73594030C>A (hg19) ; chr10:g.71834273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834273C>A , CM000672.2:g.71834273C>A	GRCh38
NC_000010.10:g.73594030C>A , CM000672.1:g.73594030C>A	GRCh37
NC_000010.9:g.73264036C>A	NCBI36
NG_009301.1:g.22053G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394936.8:c.174+99G>T MANE Select	ENSP00000378394.3:n.174+99G>T
ENST00000394934.4:c.174+99G>T	ENSP00000378392.2:n.174+99G>T
ENST00000394936.7:c.174+99G>T	ENSP00000378394.3:n.174+99G>T
ENST00000610929.3:c.174+99G>T	ENSP00000480857.1:n.174+99G>T
NM_001042465.1:c.174+99G>T	NP_001035930.1:n.174+99G>T
NM_001042466.1:c.174+99G>T	NP_001035931.1:n.174+99G>T
NM_002778.2:c.174+99G>T	NP_002769.1:n.174+99G>T
NM_001042465.2:c.174+99G>T	NP_001035930.1:n.174+99G>T
NM_001042466.2:c.174+99G>T	NP_001035931.1:n.174+99G>T
NM_002778.3:c.174+99G>T	NP_002769.1:n.174+99G>T
NM_002778.4:c.174+99G>T MANE Select	NP_002769.1:n.174+99G>T
NM_001042465.3:c.174+99G>T	NP_001035930.1:n.174+99G>T
NM_001042466.3:c.174+99G>T	NP_001035931.1:n.174+99G>T