Canonical Allele Identifier: CA414660822

Gene: SLC25A14

Linked Data

• MyVariant Identifiers: chrX:g.129480655C>G (hg19) ; chrX:g.130346681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130346681C>G , CM000685.2:g.130346681C>G	GRCh38
NC_000023.10:g.129480655C>G , CM000685.1:g.129480655C>G	GRCh37
NC_000023.9:g.129308336C>G	NCBI36
NG_012850.1:g.11609C>G
NG_012850.2:g.11609C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545805.6:c.307C>G MANE Select	ENSP00000444642.2:p.Leu103Val
ENST00000218197.9:c.307C>G	ENSP00000218197.5:p.Leu103Val
ENST00000339231.3:c.298C>G	ENSP00000342797.3:p.Leu100Val
ENST00000361980.9:c.298C>G	ENSP00000354455.5:p.Leu100Val
ENST00000424447.5:c.307C>G	ENSP00000402578.1:p.Leu103Val
ENST00000464184.5:n.298C>G
ENST00000464342.5:n.299C>G
ENST00000467346.1:n.228C>G
ENST00000467496.5:n.452C>G
ENST00000478474.5:n.91+1406C>G
ENST00000495156.5:n.309C>G
ENST00000543953.5:c.202C>G	ENSP00000445225.2:p.Leu68Val
ENST00000545805.5:c.307C>G	ENSP00000444642.2:p.Leu103Val
ENST00000612248.4:c.298C>G	ENSP00000477981.1:p.Leu100Val
NM_001282195.1:c.307C>G	NP_001269124.1:p.Leu103Val
NM_001282196.1:c.298C>G	NP_001269125.1:p.Leu100Val
NM_001282197.1:c.298C>G	NP_001269126.1:p.Leu100Val
NM_001282198.1:c.202C>G	NP_001269127.1:p.Leu68Val
NR_104107.1:n.321C>G
XM_005262489.3:c.15-2570C>G	XP_005262546.1:n.15-2570C>G
XM_011531402.1:c.334C>G	XP_011529704.1:p.Leu112Val
XM_011531403.1:c.202C>G	XP_011529705.1:p.Leu68Val
XM_011531404.1:c.298C>G	XP_011529706.1:p.Leu100Val
XM_011531405.1:c.202C>G	XP_011529707.1:p.Leu68Val
XM_005262489.5:c.15-2570C>G	XP_005262546.1:n.15-2570C>G
XM_011531402.2:c.334C>G	XP_011529704.1:p.Leu112Val
XM_017029936.2:c.202C>G	XP_016885425.1:p.Leu68Val
XM_017029937.1:c.334C>G	XP_016885426.1:p.Leu112Val
XM_017029938.2:c.307C>G	XP_016885427.1:p.Leu103Val
XM_017029939.2:c.298C>G	XP_016885428.1:p.Leu100Val
XM_017029940.1:c.15-2570C>G	XP_016885429.1:n.15-2570C>G
XM_017029941.1:c.-170C>G	XP_016885430.1:n.-170C>G
XM_017029942.1:c.-116+1406C>G	XP_016885431.1:n.-116+1406C>G
XM_017029943.1:c.-101-2570C>G	XP_016885432.1:n.-101-2570C>G
XM_024452474.1:c.307C>G	XP_024308242.1:p.Leu103Val
NM_001282195.2:c.307C>G MANE Select	NP_001269124.1:p.Leu103Val
NM_001282196.2:c.298C>G	NP_001269125.1:p.Leu100Val
NR_104107.2:n.290C>G
NM_001282197.2:c.298C>G	NP_001269126.1:p.Leu100Val
NM_001282198.2:c.202C>G	NP_001269127.1:p.Leu68Val