Canonical Allele Identifier: CA335736073
Gene: SLC25A14 HGNC NCBI

Linked Data

dbSNP Id: rs5977238
gnomAD v2: X-129480736-G-A
gnomAD v3: X-130346762-G-A
gnomAD v4: X-130346762-G-A
MyVariant Identifiers: chrX:g.129480736G>A (hg19) chrX:g.130346762G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130346762G>A , CM000685.2:g.130346762G>A GRCh38
NC_000023.10:g.129480736G>A , CM000685.1:g.129480736G>A GRCh37
NC_000023.9:g.129308417G>A NCBI36
NG_012850.1:g.11690G>A
NG_012850.2:g.11690G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545805.6:c.317+71G>A MANE Select ENSP00000444642.2:n.317+71G>A
ENST00000218197.9:c.317+71G>A ENSP00000218197.5:n.317+71G>A
ENST00000339231.3:c.308+71G>A ENSP00000342797.3:n.308+71G>A
ENST00000361980.9:c.308+71G>A ENSP00000354455.5:n.308+71G>A
ENST00000424447.5:c.317+71G>A ENSP00000402578.1:n.317+71G>A
ENST00000464184.5:n.308+71G>A
ENST00000464342.5:n.309+71G>A
ENST00000467346.1:n.238+71G>A
ENST00000467496.5:n.462+71G>A
ENST00000478474.5:n.91+1487G>A
ENST00000495156.5:n.319+71G>A
ENST00000543953.5:c.212+71G>A ENSP00000445225.2:n.212+71G>A
ENST00000545805.5:c.317+71G>A ENSP00000444642.2:n.317+71G>A
ENST00000612248.4:c.308+71G>A ENSP00000477981.1:n.308+71G>A
NM_001282195.1:c.317+71G>A NP_001269124.1:n.317+71G>A
NM_001282196.1:c.308+71G>A NP_001269125.1:n.308+71G>A
NM_001282197.1:c.308+71G>A NP_001269126.1:n.308+71G>A
NM_001282198.1:c.212+71G>A NP_001269127.1:n.212+71G>A
NR_104107.1:n.331+71G>A
XM_005262489.3:c.15-2489G>A XP_005262546.1:n.15-2489G>A
XM_011531402.1:c.344+71G>A XP_011529704.1:n.344+71G>A
XM_011531403.1:c.212+71G>A XP_011529705.1:n.212+71G>A
XM_011531404.1:c.308+71G>A XP_011529706.1:n.308+71G>A
XM_011531405.1:c.212+71G>A XP_011529707.1:n.212+71G>A
XM_005262489.5:c.15-2489G>A XP_005262546.1:n.15-2489G>A
XM_011531402.2:c.344+71G>A XP_011529704.1:n.344+71G>A
XM_017029936.2:c.212+71G>A XP_016885425.1:n.212+71G>A
XM_017029937.1:c.344+71G>A XP_016885426.1:n.344+71G>A
XM_017029938.2:c.317+71G>A XP_016885427.1:n.317+71G>A
XM_017029939.2:c.308+71G>A XP_016885428.1:n.308+71G>A
XM_017029940.1:c.15-2489G>A XP_016885429.1:n.15-2489G>A
XM_017029941.1:c.-160+71G>A XP_016885430.1:n.-160+71G>A
XM_017029942.1:c.-116+1487G>A XP_016885431.1:n.-116+1487G>A
XM_017029943.1:c.-101-2489G>A XP_016885432.1:n.-101-2489G>A
XM_024452474.1:c.317+71G>A XP_024308242.1:n.317+71G>A
NM_001282195.2:c.317+71G>A MANE Select NP_001269124.1:n.317+71G>A
NM_001282196.2:c.308+71G>A NP_001269125.1:n.308+71G>A
NR_104107.2:n.300+71G>A
NM_001282197.2:c.308+71G>A NP_001269126.1:n.308+71G>A
NM_001282198.2:c.212+71G>A NP_001269127.1:n.212+71G>A
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