Canonical Allele Identifier: CA365238101

Gene: SLC22A16

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.110456925T>A , CM000668.2:g.110456925T>A	GRCh38
NC_000006.11:g.110778128T>A , CM000668.1:g.110778128T>A	GRCh37
NC_000006.10:g.110884821T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033125.4:c.146A>T MANE Select	NP_149116.2:p.His49Leu
ENST00000368919.8:c.146A>T MANE Select	ENSP00000357915.3:p.His49Leu
NM_033125.3:c.146A>T	NP_149116.2:p.His49Leu
ENST00000330550.8:c.140A>T	ENSP00000328583.4:p.His47Leu
ENST00000368919.7:c.146A>T	ENSP00000357915.3:p.His49Leu
ENST00000424139.1:c.17A>T	ENSP00000401007.1:p.His6Leu
ENST00000434949.5:c.-3A>T	ENSP00000409306.1:n.-3A>T
ENST00000437378.5:c.17A>T	ENSP00000416310.1:p.His6Leu
ENST00000461487.1:n.213A>T
XM_005267184.2:c.-3A>T	XP_005267241.1:n.-3A>T
XM_005267184.4:c.-3A>T	XP_005267241.1:n.-3A>T
XM_011536204.1:c.17A>T	XP_011534506.1:p.His6Leu
XM_011536204.3:c.17A>T	XP_011534506.1:p.His6Leu
XM_011536205.1:c.146A>T	XP_011534507.1:p.His49Leu
XM_011536205.2:c.146A>T	XP_011534507.1:p.His49Leu
XM_011536206.1:c.146A>T	XP_011534508.1:p.His49Leu
XM_011536206.2:c.146A>T	XP_011534508.1:p.His49Leu
XM_011536207.1:c.154A>T	XP_011534509.1:p.Ile52Phe
XM_011536207.3:c.154A>T	XP_011534509.1:p.Ile52Phe
XM_011536208.1:c.118A>T	XP_011534510.1:p.Ile40Phe
XM_011536208.3:c.118A>T	XP_011534510.1:p.Ile40Phe
XM_011536209.1:c.103A>T	XP_011534511.1:p.Ile35Phe
XM_011536209.3:c.103A>T	XP_011534511.1:p.Ile35Phe
XM_011536210.1:c.146A>T	XP_011534512.1:p.His49Leu
XM_011536211.1:c.146A>T	XP_011534513.1:p.His49Leu
XM_011536211.2:c.146A>T	XP_011534513.1:p.His49Leu