Canonical Allele Identifier: CA515486460

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377708C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359590C>G , CM000685.2:g.19359590C>G	GRCh38
NC_000023.10:g.19377708C>G , CM000685.1:g.19377708C>G	GRCh37
NC_000023.9:g.19287629C>G	NCBI36
NG_016781.1:g.20698C>G
NG_021184.1:g.160672G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1131C>G	ENSP00000348062.6:p.Ser377=
ENST00000379805.4:c.*802C>G	ENSP00000369133.3:n.*802C>G
ENST00000417819.6:c.1194C>G	ENSP00000404616.2:p.Ser398=
ENST00000423505.6:c.1224C>G	ENSP00000406473.2:p.Ser408=
ENST00000481733.2:n.905C>G
ENST00000696704.1:c.*442C>G	ENSP00000512823.1:n.*442C>G
ENST00000696705.1:c.*565C>G	ENSP00000512824.1:n.*565C>G
ENST00000422285.7:c.1110C>G MANE Select	ENSP00000394382.2:p.Ser370=
ENST00000379804.1:c.267C>G	ENSP00000369132.1:p.Ser89=
ENST00000379806.9:c.1224C>G	ENSP00000369134.5:p.Ser408=
ENST00000422285.6:c.1110C>G	ENSP00000394382.2:p.Ser370=
ENST00000478795.1:n.549C>G
ENST00000540249.5:c.1017C>G	ENSP00000440761.1:p.Ser339=
ENST00000545074.5:c.1131C>G	ENSP00000438550.1:p.Ser377=
NM_000284.3:c.1110C>G	NP_000275.1:p.Ser370=
NM_001173454.1:c.1224C>G	NP_001166925.1:p.Ser408=
NM_001173455.1:c.1131C>G	NP_001166926.1:p.Ser377=
NM_001173456.1:c.1017C>G	NP_001166927.1:p.Ser339=
XM_011545531.1:c.1245C>G	XP_011543833.1:p.Ser415=
XM_011545532.1:c.1152C>G	XP_011543834.1:p.Ser384=
XM_017029574.2:c.1131C>G	XP_016885063.1:p.Ser377=
NM_000284.4:c.1110C>G MANE Select	NP_000275.1:p.Ser370=
NM_001173454.2:c.1224C>G	NP_001166925.1:p.Ser408=
NM_001173455.2:c.1131C>G	NP_001166926.1:p.Ser377=
NM_001173456.2:c.1017C>G	NP_001166927.1:p.Ser339=