Canonical Allele Identifier: CA412396240

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358996-G-A
• MyVariant Identifiers: chrX:g.19377114G>A (hg19) ; chrX:g.19358996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358996G>A , CM000685.2:g.19358996G>A	GRCh38
NC_000023.10:g.19377114G>A , CM000685.1:g.19377114G>A	GRCh37
NC_000023.9:g.19287035G>A	NCBI36
NG_016781.1:g.20104G>A
NG_021184.1:g.161266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1001G>A	ENSP00000348062.6:p.Ser334Asn
ENST00000379805.4:c.*672G>A	ENSP00000369133.3:n.*672G>A
ENST00000417819.6:c.1064G>A	ENSP00000404616.2:p.Ser355Asn
ENST00000423505.6:c.1094G>A	ENSP00000406473.2:p.Ser365Asn
ENST00000481733.2:n.775G>A
ENST00000696704.1:c.*312G>A	ENSP00000512823.1:n.*312G>A
ENST00000696705.1:c.*435G>A	ENSP00000512824.1:n.*435G>A
ENST00000422285.7:c.980G>A MANE Select	ENSP00000394382.2:p.Ser327Asn
ENST00000379804.1:c.137G>A	ENSP00000369132.1:p.Ser46Asn
ENST00000379806.9:c.1094G>A	ENSP00000369134.5:p.Ser365Asn
ENST00000422285.6:c.980G>A	ENSP00000394382.2:p.Ser327Asn
ENST00000478795.1:n.419G>A
ENST00000481733.1:n.408G>A
ENST00000540249.5:c.887G>A	ENSP00000440761.1:p.Ser296Asn
ENST00000545074.5:c.1001G>A	ENSP00000438550.1:p.Ser334Asn
NM_000284.3:c.980G>A	NP_000275.1:p.Ser327Asn
NM_001173454.1:c.1094G>A	NP_001166925.1:p.Ser365Asn
NM_001173455.1:c.1001G>A	NP_001166926.1:p.Ser334Asn
NM_001173456.1:c.887G>A	NP_001166927.1:p.Ser296Asn
XM_011545531.1:c.1115G>A	XP_011543833.1:p.Ser372Asn
XM_011545532.1:c.1022G>A	XP_011543834.1:p.Ser341Asn
XM_017029574.2:c.1001G>A	XP_016885063.1:p.Ser334Asn
NM_000284.4:c.980G>A MANE Select	NP_000275.1:p.Ser327Asn
NM_001173454.2:c.1094G>A	NP_001166925.1:p.Ser365Asn
NM_001173455.2:c.1001G>A	NP_001166926.1:p.Ser334Asn
NM_001173456.2:c.887G>A	NP_001166927.1:p.Ser296Asn