Canonical Allele Identifier: CA310752131

Gene: SNPH

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.1305823G>C , CM000682.2:g.1305823G>C	GRCh38
NC_000020.10:g.1286467G>C , CM000682.1:g.1286467G>C	GRCh37
NC_000020.9:g.1234467G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381867.6:c.1386G>C MANE Select	ENSP00000371291.1:p.Lys462Asn
ENST00000649598.1:c.1353G>C	ENSP00000496966.1:p.Lys451Asn
ENST00000381867.5:c.1386G>C	ENSP00000371291.1:p.Lys462Asn
ENST00000381873.7:c.1254G>C	ENSP00000371297.3:p.Lys418Asn
ENST00000614659.1:c.1386G>C	ENSP00000479696.1:p.Lys462Asn
NM_014723.2:c.1254G>C	NP_055538.2:p.Lys418Asn
XM_005260888.2:c.1386G>C	XP_005260945.1:p.Lys462Asn
XM_005260889.2:c.1353G>C	XP_005260946.1:p.Lys451Asn
XM_011529402.1:c.1485G>C	XP_011527704.1:p.Lys495Asn
XM_011529403.1:c.1485G>C	XP_011527705.1:p.Lys495Asn
XM_011529404.1:c.1353G>C	XP_011527706.1:p.Lys451Asn
XM_011529405.1:c.1353G>C	XP_011527707.1:p.Lys451Asn
XM_011529406.1:c.1353G>C	XP_011527708.1:p.Lys451Asn
NM_001318234.1:c.1386G>C	NP_001305163.1:p.Lys462Asn
NM_014723.3:c.1254G>C	NP_055538.2:p.Lys418Asn
XM_005260889.3:c.1353G>C	XP_005260946.1:p.Lys451Asn
XM_011529402.2:c.1485G>C	XP_011527704.1:p.Lys495Asn
XM_011529403.2:c.1485G>C	XP_011527705.1:p.Lys495Asn
XM_011529404.2:c.1353G>C	XP_011527706.1:p.Lys451Asn
NM_001318234.2:c.1386G>C MANE Select	NP_001305163.1:p.Lys462Asn
NM_014723.4:c.1254G>C	NP_055538.2:p.Lys418Asn