Canonical Allele Identifier: CA412396129

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377067A>C (hg19) ; chrX:g.19358949A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358949A>C , CM000685.2:g.19358949A>C	GRCh38
NC_000023.10:g.19377067A>C , CM000685.1:g.19377067A>C	GRCh37
NC_000023.9:g.19286988A>C	NCBI36
NG_016781.1:g.20057A>C
NG_021184.1:g.161313T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.954A>C	ENSP00000348062.6:p.Arg318Ser
ENST00000379805.4:c.*625A>C	ENSP00000369133.3:n.*625A>C
ENST00000417819.6:c.1017A>C	ENSP00000404616.2:p.Arg339Ser
ENST00000423505.6:c.1047A>C	ENSP00000406473.2:p.Arg349Ser
ENST00000481733.2:n.728A>C
ENST00000696704.1:c.*265A>C	ENSP00000512823.1:n.*265A>C
ENST00000696705.1:c.*388A>C	ENSP00000512824.1:n.*388A>C
ENST00000422285.7:c.933A>C MANE Select	ENSP00000394382.2:p.Arg311Ser
ENST00000379804.1:c.90A>C	ENSP00000369132.1:p.Arg30Ser
ENST00000379806.9:c.1047A>C	ENSP00000369134.5:p.Arg349Ser
ENST00000422285.6:c.933A>C	ENSP00000394382.2:p.Arg311Ser
ENST00000478795.1:n.372A>C
ENST00000481733.1:n.361A>C
ENST00000540249.5:c.840A>C	ENSP00000440761.1:p.Arg280Ser
ENST00000545074.5:c.954A>C	ENSP00000438550.1:p.Arg318Ser
NM_000284.3:c.933A>C	NP_000275.1:p.Arg311Ser
NM_001173454.1:c.1047A>C	NP_001166925.1:p.Arg349Ser
NM_001173455.1:c.954A>C	NP_001166926.1:p.Arg318Ser
NM_001173456.1:c.840A>C	NP_001166927.1:p.Arg280Ser
XM_011545531.1:c.1068A>C	XP_011543833.1:p.Arg356Ser
XM_011545532.1:c.975A>C	XP_011543834.1:p.Arg325Ser
XM_017029574.2:c.954A>C	XP_016885063.1:p.Arg318Ser
NM_000284.4:c.933A>C MANE Select	NP_000275.1:p.Arg311Ser
NM_001173454.2:c.1047A>C	NP_001166925.1:p.Arg349Ser
NM_001173455.2:c.954A>C	NP_001166926.1:p.Arg318Ser
NM_001173456.2:c.840A>C	NP_001166927.1:p.Arg280Ser