Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14489213A>C , CM000665.2:g.14489213A>C	GRCh38
NC_000003.11:g.14530721A>C , CM000665.1:g.14530721A>C	GRCh37
NC_000003.10:g.14505725A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080423.4:c.*4452T>G (GRIP2) MANE Select	NP_001073892.3:n.*4452T>G
NM_003043.6:c.*4206A>C (SLC6A6) MANE Select	NP_003034.2:n.*4206A>C
ENST00000621039.5:c.*4452T>G (GRIP2) MANE Select	ENSP00000478352.1:n.*4452T>G
ENST00000622186.5:c.*4206A>C (SLC6A6) MANE Select	ENSP00000480890.1:n.*4206A>C
NM_001080423.3:c.*4452T>G (GRIP2)	NP_001073892.3:n.*4452T>G
NM_001134367.3:c.*4206A>C (SLC6A6)	NP_001127839.2:n.*4206A>C
NM_003043.5:c.*4206A>C (SLC6A6)	NP_003034.2:n.*4206A>C
NR_103507.2:n.6269A>C (SLC6A6)
NR_103507.3:n.6239A>C (SLC6A6)
ENST00000613060.4:c.*4206A>C (SLC6A6)	ENSP00000481625.1:n.*4206A>C
ENST00000618278.4:c.*4864A>C (SLC6A6)	ENSP00000481946.1:n.*4864A>C
ENST00000619221.4:c.7875T>G (GRIP2)	ENSP00000480660.1:n.7875T>G
ENST00000621039.4:c.*4452T>G (GRIP2)	ENSP00000478352.1:n.*4452T>G
ENST00000622186.4:c.*4206A>C (SLC6A6)	ENSP00000480890.1:n.*4206A>C
ENST00000649500.1:c.*5977A>C (SLC6A6)	ENSP00000497250.1:n.*5977A>C
XM_006713307.1:c.*4206A>C (SLC6A6)	XP_006713370.1:n.*4206A>C
XM_006713307.2:c.*4206A>C (SLC6A6)	XP_006713370.1:n.*4206A>C
XM_011534029.1:c.*4206A>C (SLC6A6)	XP_011532331.1:n.*4206A>C
XM_011534030.1:c.*4206A>C (SLC6A6)	XP_011532332.1:n.*4206A>C
XM_011534030.2:c.*4206A>C (SLC6A6)	XP_011532332.1:n.*4206A>C
XM_011534031.1:c.*4206A>C (SLC6A6)	XP_011532333.1:n.*4206A>C
XM_011534031.2:c.*4206A>C (SLC6A6)	XP_011532333.1:n.*4206A>C
XM_011534141.3:c.*4452T>G (GRIP2)	XP_011532443.1:n.*4452T>G
XM_011534142.3:c.*4452T>G (GRIP2)	XP_011532444.1:n.*4452T>G
XM_011534143.3:c.*4452T>G (GRIP2)	XP_011532445.1:n.*4452T>G
XM_011534145.3:c.*4452T>G (GRIP2)	XP_011532447.1:n.*4452T>G
XM_011534146.3:c.*4452T>G (GRIP2)	XP_011532448.1:n.*4452T>G
XR_427286.1:n.6073A>C (SLC6A6)
XR_427286.2:n.6073A>C (SLC6A6)
XR_940504.3:n.7983T>G (GRIP2)