Canonical Allele Identifier: CA412396297

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359020-T-C
• MyVariant Identifiers: chrX:g.19377138T>C (hg19) ; chrX:g.19359020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359020T>C , CM000685.2:g.19359020T>C	GRCh38
NC_000023.10:g.19377138T>C , CM000685.1:g.19377138T>C	GRCh37
NC_000023.9:g.19287059T>C	NCBI36
NG_016781.1:g.20128T>C
NG_021184.1:g.161242A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1025T>C	ENSP00000348062.6:p.Leu342Pro
ENST00000379805.4:c.*696T>C	ENSP00000369133.3:n.*696T>C
ENST00000417819.6:c.1088T>C	ENSP00000404616.2:p.Leu363Pro
ENST00000423505.6:c.1118T>C	ENSP00000406473.2:p.Leu373Pro
ENST00000481733.2:n.799T>C
ENST00000696704.1:c.*336T>C	ENSP00000512823.1:n.*336T>C
ENST00000696705.1:c.*459T>C	ENSP00000512824.1:n.*459T>C
ENST00000422285.7:c.1004T>C MANE Select	ENSP00000394382.2:p.Leu335Pro
ENST00000379804.1:c.161T>C	ENSP00000369132.1:p.Leu54Pro
ENST00000379806.9:c.1118T>C	ENSP00000369134.5:p.Leu373Pro
ENST00000422285.6:c.1004T>C	ENSP00000394382.2:p.Leu335Pro
ENST00000478795.1:n.443T>C
ENST00000481733.1:n.432T>C
ENST00000540249.5:c.911T>C	ENSP00000440761.1:p.Leu304Pro
ENST00000545074.5:c.1025T>C	ENSP00000438550.1:p.Leu342Pro
NM_000284.3:c.1004T>C	NP_000275.1:p.Leu335Pro
NM_001173454.1:c.1118T>C	NP_001166925.1:p.Leu373Pro
NM_001173455.1:c.1025T>C	NP_001166926.1:p.Leu342Pro
NM_001173456.1:c.911T>C	NP_001166927.1:p.Leu304Pro
XM_011545531.1:c.1139T>C	XP_011543833.1:p.Leu380Pro
XM_011545532.1:c.1046T>C	XP_011543834.1:p.Leu349Pro
XM_017029574.2:c.1025T>C	XP_016885063.1:p.Leu342Pro
NM_000284.4:c.1004T>C MANE Select	NP_000275.1:p.Leu335Pro
NM_001173454.2:c.1118T>C	NP_001166925.1:p.Leu373Pro
NM_001173455.2:c.1025T>C	NP_001166926.1:p.Leu342Pro
NM_001173456.2:c.911T>C	NP_001166927.1:p.Leu304Pro