Canonical Allele Identifier: CA412397504

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359649-G-A
• MyVariant Identifiers: chrX:g.19377767G>A (hg19) ; chrX:g.19359649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359649G>A , CM000685.2:g.19359649G>A	GRCh38
NC_000023.10:g.19377767G>A , CM000685.1:g.19377767G>A	GRCh37
NC_000023.9:g.19287688G>A	NCBI36
NG_016781.1:g.20757G>A
NG_021184.1:g.160613C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1190G>A	ENSP00000348062.6:p.Ser397Asn
ENST00000379805.4:c.*861G>A	ENSP00000369133.3:n.*861G>A
ENST00000417819.6:c.1253G>A	ENSP00000404616.2:p.Ser418Asn
ENST00000423505.6:c.1283G>A	ENSP00000406473.2:p.Ser428Asn
ENST00000481733.2:n.964G>A
ENST00000696704.1:c.*501G>A	ENSP00000512823.1:n.*501G>A
ENST00000696705.1:c.*624G>A	ENSP00000512824.1:n.*624G>A
ENST00000422285.7:c.1169G>A MANE Select	ENSP00000394382.2:p.Ser390Asn
ENST00000379804.1:c.326G>A	ENSP00000369132.1:p.Ser109Asn
ENST00000379806.9:c.1283G>A	ENSP00000369134.5:p.Ser428Asn
ENST00000422285.6:c.1169G>A	ENSP00000394382.2:p.Ser390Asn
ENST00000478795.1:n.608G>A
ENST00000540249.5:c.1076G>A	ENSP00000440761.1:p.Ser359Asn
ENST00000545074.5:c.1190G>A	ENSP00000438550.1:p.Ser397Asn
NM_000284.3:c.1169G>A	NP_000275.1:p.Ser390Asn
NM_001173454.1:c.1283G>A	NP_001166925.1:p.Ser428Asn
NM_001173455.1:c.1190G>A	NP_001166926.1:p.Ser397Asn
NM_001173456.1:c.1076G>A	NP_001166927.1:p.Ser359Asn
XM_011545531.1:c.1304G>A	XP_011543833.1:p.Ser435Asn
XM_011545532.1:c.1211G>A	XP_011543834.1:p.Ser404Asn
XM_017029574.2:c.1190G>A	XP_016885063.1:p.Ser397Asn
NM_000284.4:c.1169G>A MANE Select	NP_000275.1:p.Ser390Asn
NM_001173454.2:c.1283G>A	NP_001166925.1:p.Ser428Asn
NM_001173455.2:c.1190G>A	NP_001166926.1:p.Ser397Asn
NM_001173456.2:c.1076G>A	NP_001166927.1:p.Ser359Asn