Canonical Allele Identifier: CA412396398

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377617T>C (hg19) ; chrX:g.19359499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359499T>C , CM000685.2:g.19359499T>C	GRCh38
NC_000023.10:g.19377617T>C , CM000685.1:g.19377617T>C	GRCh37
NC_000023.9:g.19287538T>C	NCBI36
NG_016781.1:g.20607T>C
NG_021184.1:g.160763A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1040T>C	ENSP00000348062.6:p.Val347Ala
ENST00000379805.4:c.*711T>C	ENSP00000369133.3:n.*711T>C
ENST00000417819.6:c.1103T>C	ENSP00000404616.2:p.Val368Ala
ENST00000423505.6:c.1133T>C	ENSP00000406473.2:p.Val378Ala
ENST00000481733.2:n.814T>C
ENST00000696704.1:c.*351T>C	ENSP00000512823.1:n.*351T>C
ENST00000696705.1:c.*474T>C	ENSP00000512824.1:n.*474T>C
ENST00000422285.7:c.1019T>C MANE Select	ENSP00000394382.2:p.Val340Ala
ENST00000379804.1:c.176T>C	ENSP00000369132.1:p.Val59Ala
ENST00000379806.9:c.1133T>C	ENSP00000369134.5:p.Val378Ala
ENST00000422285.6:c.1019T>C	ENSP00000394382.2:p.Val340Ala
ENST00000478795.1:n.458T>C
ENST00000540249.5:c.926T>C	ENSP00000440761.1:p.Val309Ala
ENST00000545074.5:c.1040T>C	ENSP00000438550.1:p.Val347Ala
NM_000284.3:c.1019T>C	NP_000275.1:p.Val340Ala
NM_001173454.1:c.1133T>C	NP_001166925.1:p.Val378Ala
NM_001173455.1:c.1040T>C	NP_001166926.1:p.Val347Ala
NM_001173456.1:c.926T>C	NP_001166927.1:p.Val309Ala
XM_011545531.1:c.1154T>C	XP_011543833.1:p.Val385Ala
XM_011545532.1:c.1061T>C	XP_011543834.1:p.Val354Ala
XM_017029574.2:c.1040T>C	XP_016885063.1:p.Val347Ala
NM_000284.4:c.1019T>C MANE Select	NP_000275.1:p.Val340Ala
NM_001173454.2:c.1133T>C	NP_001166925.1:p.Val378Ala
NM_001173455.2:c.1040T>C	NP_001166926.1:p.Val347Ala
NM_001173456.2:c.926T>C	NP_001166927.1:p.Val309Ala