Canonical Allele Identifier: CA327030570

Gene: PDHA1

Linked Data

• dbSNP Id: rs374649412
• gnomAD v4: X-19358955-G-A
• MyVariant Identifiers: chrX:g.19377073G>A (hg19) ; chrX:g.19358955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358955G>A , CM000685.2:g.19358955G>A	GRCh38
NC_000023.10:g.19377073G>A , CM000685.1:g.19377073G>A	GRCh37
NC_000023.9:g.19286994G>A	NCBI36
NG_016781.1:g.20063G>A
NG_021184.1:g.161307C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.960G>A	ENSP00000348062.6:p.Lys320=
ENST00000379805.4:c.*631G>A	ENSP00000369133.3:n.*631G>A
ENST00000417819.6:c.1023G>A	ENSP00000404616.2:p.Lys341=
ENST00000423505.6:c.1053G>A	ENSP00000406473.2:p.Lys351=
ENST00000481733.2:n.734G>A
ENST00000696704.1:c.*271G>A	ENSP00000512823.1:n.*271G>A
ENST00000696705.1:c.*394G>A	ENSP00000512824.1:n.*394G>A
ENST00000422285.7:c.939G>A MANE Select	ENSP00000394382.2:p.Lys313=
ENST00000379804.1:c.96G>A	ENSP00000369132.1:p.Lys32=
ENST00000379806.9:c.1053G>A	ENSP00000369134.5:p.Lys351=
ENST00000422285.6:c.939G>A	ENSP00000394382.2:p.Lys313=
ENST00000478795.1:n.378G>A
ENST00000481733.1:n.367G>A
ENST00000540249.5:c.846G>A	ENSP00000440761.1:p.Lys282=
ENST00000545074.5:c.960G>A	ENSP00000438550.1:p.Lys320=
NM_000284.3:c.939G>A	NP_000275.1:p.Lys313=
NM_001173454.1:c.1053G>A	NP_001166925.1:p.Lys351=
NM_001173455.1:c.960G>A	NP_001166926.1:p.Lys320=
NM_001173456.1:c.846G>A	NP_001166927.1:p.Lys282=
XM_011545531.1:c.1074G>A	XP_011543833.1:p.Lys358=
XM_011545532.1:c.981G>A	XP_011543834.1:p.Lys327=
XM_017029574.2:c.960G>A	XP_016885063.1:p.Lys320=
NM_000284.4:c.939G>A MANE Select	NP_000275.1:p.Lys313=
NM_001173454.2:c.1053G>A	NP_001166925.1:p.Lys351=
NM_001173455.2:c.960G>A	NP_001166926.1:p.Lys320=
NM_001173456.2:c.846G>A	NP_001166927.1:p.Lys282=