Canonical Allele Identifier: CA2516526238

Gene: SLC44A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105280384T>A , CM000671.2:g.105280384T>A	GRCh38
NC_000009.11:g.108042665T>A , CM000671.1:g.108042665T>A	GRCh37
NC_000009.10:g.107082486T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699289.1:c.37-18836T>A	ENSP00000514270.1:n.37-18836T>A
ENST00000699290.1:c.37-18836T>A	ENSP00000514271.1:n.37-18836T>A
ENST00000374720.8:c.37-18836T>A MANE Select	ENSP00000363852.3:n.37-18836T>A
ENST00000374720.7:c.37-18836T>A	ENSP00000363852.3:n.37-18836T>A
ENST00000374723.5:c.37-18836T>A	ENSP00000363855.1:n.37-18836T>A
ENST00000374724.1:c.37-18836T>A	ENSP00000363856.1:n.37-18836T>A
ENST00000470972.5:c.37-18836T>A	ENSP00000433072.1:n.37-18836T>A
NM_001286730.1:c.37-18836T>A	NP_001273659.1:n.37-18836T>A
NM_080546.4:c.37-18836T>A	NP_536856.2:n.37-18836T>A
XM_005251855.3:c.37-18836T>A	XP_005251912.1:n.37-18836T>A
XM_006717027.2:c.90+6751T>A	XP_006717090.1:n.90+6751T>A
XM_006717028.2:c.90+6751T>A	XP_006717091.1:n.90+6751T>A
XM_006717029.2:c.90+6751T>A	XP_006717092.1:n.90+6751T>A
NM_001330731.1:c.37-18836T>A	NP_001317660.1:n.37-18836T>A
XM_005251855.4:c.37-18836T>A	XP_005251912.1:n.37-18836T>A
XM_006717027.3:c.90+6751T>A	XP_006717090.1:n.90+6751T>A
XM_006717028.3:c.90+6751T>A	XP_006717091.1:n.90+6751T>A
XM_006717029.3:c.90+6751T>A	XP_006717092.1:n.90+6751T>A
XM_017014560.2:c.-258-18836T>A	XP_016870049.1:n.-258-18836T>A
NM_080546.5:c.37-18836T>A MANE Select	NP_536856.2:n.37-18836T>A
NM_001286730.2:c.37-18836T>A	NP_001273659.1:n.37-18836T>A
NM_001330731.2:c.37-18836T>A	NP_001317660.1:n.37-18836T>A