Canonical Allele Identifier: CA414660842

Gene: SLC25A14

Linked Data

• gnomAD v4: X-130346685-A-G
• MyVariant Identifiers: chrX:g.129480659A>G (hg19) ; chrX:g.130346685A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130346685A>G , CM000685.2:g.130346685A>G	GRCh38
NC_000023.10:g.129480659A>G , CM000685.1:g.129480659A>G	GRCh37
NC_000023.9:g.129308340A>G	NCBI36
NG_012850.1:g.11613A>G
NG_012850.2:g.11613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545805.6:c.311A>G MANE Select	ENSP00000444642.2:p.Tyr104Cys
ENST00000218197.9:c.311A>G	ENSP00000218197.5:p.Tyr104Cys
ENST00000339231.3:c.302A>G	ENSP00000342797.3:p.Tyr101Cys
ENST00000361980.9:c.302A>G	ENSP00000354455.5:p.Tyr101Cys
ENST00000424447.5:c.311A>G	ENSP00000402578.1:p.Tyr104Cys
ENST00000464184.5:n.302A>G
ENST00000464342.5:n.303A>G
ENST00000467346.1:n.232A>G
ENST00000467496.5:n.456A>G
ENST00000478474.5:n.91+1410A>G
ENST00000495156.5:n.313A>G
ENST00000543953.5:c.206A>G	ENSP00000445225.2:p.Tyr69Cys
ENST00000545805.5:c.311A>G	ENSP00000444642.2:p.Tyr104Cys
ENST00000612248.4:c.302A>G	ENSP00000477981.1:p.Tyr101Cys
NM_001282195.1:c.311A>G	NP_001269124.1:p.Tyr104Cys
NM_001282196.1:c.302A>G	NP_001269125.1:p.Tyr101Cys
NM_001282197.1:c.302A>G	NP_001269126.1:p.Tyr101Cys
NM_001282198.1:c.206A>G	NP_001269127.1:p.Tyr69Cys
NR_104107.1:n.325A>G
XM_005262489.3:c.15-2566A>G	XP_005262546.1:n.15-2566A>G
XM_011531402.1:c.338A>G	XP_011529704.1:p.Tyr113Cys
XM_011531403.1:c.206A>G	XP_011529705.1:p.Tyr69Cys
XM_011531404.1:c.302A>G	XP_011529706.1:p.Tyr101Cys
XM_011531405.1:c.206A>G	XP_011529707.1:p.Tyr69Cys
XM_005262489.5:c.15-2566A>G	XP_005262546.1:n.15-2566A>G
XM_011531402.2:c.338A>G	XP_011529704.1:p.Tyr113Cys
XM_017029936.2:c.206A>G	XP_016885425.1:p.Tyr69Cys
XM_017029937.1:c.338A>G	XP_016885426.1:p.Tyr113Cys
XM_017029938.2:c.311A>G	XP_016885427.1:p.Tyr104Cys
XM_017029939.2:c.302A>G	XP_016885428.1:p.Tyr101Cys
XM_017029940.1:c.15-2566A>G	XP_016885429.1:n.15-2566A>G
XM_017029941.1:c.-166A>G	XP_016885430.1:n.-166A>G
XM_017029942.1:c.-116+1410A>G	XP_016885431.1:n.-116+1410A>G
XM_017029943.1:c.-101-2566A>G	XP_016885432.1:n.-101-2566A>G
XM_024452474.1:c.311A>G	XP_024308242.1:p.Tyr104Cys
NM_001282195.2:c.311A>G MANE Select	NP_001269124.1:p.Tyr104Cys
NM_001282196.2:c.302A>G	NP_001269125.1:p.Tyr101Cys
NR_104107.2:n.294A>G
NM_001282197.2:c.302A>G	NP_001269126.1:p.Tyr101Cys
NM_001282198.2:c.206A>G	NP_001269127.1:p.Tyr69Cys