Canonical Allele Identifier: CA16370610

Gene: SLC44A1

Linked Data

• dbSNP Id: rs193008
• gnomAD v2: 9-108042806-T-C
• gnomAD v3: 9-105280525-T-C
• gnomAD v4: 9-105280525-T-C
• MyVariant Identifiers: chr9:g.108042806T>C (hg19) ; chr9:g.105280525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105280525T>C , CM000671.2:g.105280525T>C	GRCh38
NC_000009.11:g.108042806T>C , CM000671.1:g.108042806T>C	GRCh37
NC_000009.10:g.107082627T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000699289.1:c.37-18695T>C	ENSP00000514270.1:n.37-18695T>C
ENST00000699290.1:c.37-18695T>C	ENSP00000514271.1:n.37-18695T>C
ENST00000374720.8:c.37-18695T>C MANE Select	ENSP00000363852.3:n.37-18695T>C
ENST00000374720.7:c.37-18695T>C	ENSP00000363852.3:n.37-18695T>C
ENST00000374723.5:c.37-18695T>C	ENSP00000363855.1:n.37-18695T>C
ENST00000374724.1:c.37-18695T>C	ENSP00000363856.1:n.37-18695T>C
ENST00000470972.5:c.37-18695T>C	ENSP00000433072.1:n.37-18695T>C
NM_001286730.1:c.37-18695T>C	NP_001273659.1:n.37-18695T>C
NM_080546.4:c.37-18695T>C	NP_536856.2:n.37-18695T>C
XM_005251855.3:c.37-18695T>C	XP_005251912.1:n.37-18695T>C
XM_006717027.2:c.90+6892T>C	XP_006717090.1:n.90+6892T>C
XM_006717028.2:c.90+6892T>C	XP_006717091.1:n.90+6892T>C
XM_006717029.2:c.90+6892T>C	XP_006717092.1:n.90+6892T>C
NM_001330731.1:c.37-18695T>C	NP_001317660.1:n.37-18695T>C
XM_005251855.4:c.37-18695T>C	XP_005251912.1:n.37-18695T>C
XM_006717027.3:c.90+6892T>C	XP_006717090.1:n.90+6892T>C
XM_006717028.3:c.90+6892T>C	XP_006717091.1:n.90+6892T>C
XM_006717029.3:c.90+6892T>C	XP_006717092.1:n.90+6892T>C
XM_017014560.2:c.-258-18695T>C	XP_016870049.1:n.-258-18695T>C
NM_080546.5:c.37-18695T>C MANE Select	NP_536856.2:n.37-18695T>C
NM_001286730.2:c.37-18695T>C	NP_001273659.1:n.37-18695T>C
NM_001330731.2:c.37-18695T>C	NP_001317660.1:n.37-18695T>C