Canonical Allele Identifier: CA7911899

Gene: PARN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14436763G>A , CM000678.2:g.14436763G>A	GRCh38
NC_000016.9:g.14530620G>A , CM000678.1:g.14530620G>A	GRCh37
NC_000016.8:g.14438121G>A	NCBI36
NG_042871.1:g.198509C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002582.4:c.1874C>T MANE Select	NP_002573.1:p.Ser625Leu
ENST00000437198.7:c.1874C>T MANE Select	ENSP00000387911.2:p.Ser625Leu
NM_001134477.2:c.1691C>T	NP_001127949.1:p.Ser564Leu
NM_001134477.3:c.1691C>T	NP_001127949.1:p.Ser564Leu
NM_001242992.1:c.1736C>T	NP_001229921.1:p.Ser579Leu
NM_001242992.2:c.1736C>T	NP_001229921.1:p.Ser579Leu
NM_002582.3:c.1874C>T	NP_002573.1:p.Ser625Leu
ENST00000341484.11:c.1691C>T	ENSP00000345456.7:p.Ser564Leu
ENST00000420015.6:c.1736C>T	ENSP00000410525.2:p.Ser579Leu
ENST00000437198.6:c.1874C>T	ENSP00000387911.2:p.Ser625Leu
ENST00000539279.5:c.1349C>T	ENSP00000444381.1:p.Ser450Leu
ENST00000650990.1:c.1949C>T	ENSP00000498741.1:p.Ser650Leu
ENST00000651300.1:c.*1681C>T	ENSP00000498294.1:n.*1681C>T
ENST00000651348.1:c.*945C>T	ENSP00000498315.1:n.*945C>T
ENST00000651760.1:c.3062C>T
ENST00000651865.1:c.1799C>T	ENSP00000498567.1:p.Ser600Leu
ENST00000652051.1:c.*650C>T	ENSP00000498898.1:n.*650C>T
ENST00000652066.1:c.1775C>T
ENST00000652541.1:c.*1706C>T	ENSP00000499206.1:n.*1706C>T
ENST00000652727.1:c.1700C>T	ENSP00000498650.1:p.Ser567Leu
ENST00000697471.1:n.2325C>T
ENST00000697472.1:n.1915C>T
ENST00000697473.1:n.3476C>T