Canonical Allele Identifier: CA412395250

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375820G>C (hg19) ; chrX:g.19357702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357702G>C , CM000685.2:g.19357702G>C	GRCh38
NC_000023.10:g.19375820G>C , CM000685.1:g.19375820G>C	GRCh37
NC_000023.9:g.19285741G>C	NCBI36
NG_016781.1:g.18810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.903G>C	ENSP00000348062.6:p.Met301Ile
ENST00000379805.4:c.*574G>C	ENSP00000369133.3:n.*574G>C
ENST00000417819.6:c.966G>C	ENSP00000404616.2:p.Met322Ile
ENST00000423505.6:c.996G>C	ENSP00000406473.2:p.Met332Ile
ENST00000481733.2:n.677G>C
ENST00000696704.1:c.*214G>C	ENSP00000512823.1:n.*214G>C
ENST00000696705.1:c.*337G>C	ENSP00000512824.1:n.*337G>C
ENST00000422285.7:c.882G>C MANE Select	ENSP00000394382.2:p.Met294Ile
ENST00000379804.1:c.39G>C	ENSP00000369132.1:p.Met13Ile
ENST00000379806.9:c.996G>C	ENSP00000369134.5:p.Met332Ile
ENST00000422285.6:c.882G>C	ENSP00000394382.2:p.Met294Ile
ENST00000478795.1:n.321G>C
ENST00000481733.1:n.310G>C
ENST00000540249.5:c.789G>C	ENSP00000440761.1:p.Met263Ile
ENST00000545074.5:c.903G>C	ENSP00000438550.1:p.Met301Ile
NM_000284.3:c.882G>C	NP_000275.1:p.Met294Ile
NM_001173454.1:c.996G>C	NP_001166925.1:p.Met332Ile
NM_001173455.1:c.903G>C	NP_001166926.1:p.Met301Ile
NM_001173456.1:c.789G>C	NP_001166927.1:p.Met263Ile
XM_011545531.1:c.1017G>C	XP_011543833.1:p.Met339Ile
XM_011545532.1:c.924G>C	XP_011543834.1:p.Met308Ile
XM_017029574.2:c.903G>C	XP_016885063.1:p.Met301Ile
NM_000284.4:c.882G>C MANE Select	NP_000275.1:p.Met294Ile
NM_001173454.2:c.996G>C	NP_001166925.1:p.Met332Ile
NM_001173455.2:c.903G>C	NP_001166926.1:p.Met301Ile
NM_001173456.2:c.789G>C	NP_001166927.1:p.Met263Ile