Canonical Allele Identifier: CA412396144

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377073G>C (hg19) ; chrX:g.19358955G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.960G>C	ENSP00000348062.6:p.Lys320Asn
ENST00000379805.4:c.*631G>C	ENSP00000369133.3:n.*631G>C
ENST00000417819.6:c.1023G>C	ENSP00000404616.2:p.Lys341Asn
ENST00000423505.6:c.1053G>C	ENSP00000406473.2:p.Lys351Asn
ENST00000481733.2:n.734G>C
ENST00000696704.1:c.*271G>C	ENSP00000512823.1:n.*271G>C
ENST00000696705.1:c.*394G>C	ENSP00000512824.1:n.*394G>C
ENST00000422285.7:c.939G>C MANE Select	ENSP00000394382.2:p.Lys313Asn
ENST00000379804.1:c.96G>C	ENSP00000369132.1:p.Lys32Asn
ENST00000379806.9:c.1053G>C	ENSP00000369134.5:p.Lys351Asn
ENST00000422285.6:c.939G>C	ENSP00000394382.2:p.Lys313Asn
ENST00000478795.1:n.378G>C
ENST00000481733.1:n.367G>C
ENST00000540249.5:c.846G>C	ENSP00000440761.1:p.Lys282Asn
ENST00000545074.5:c.960G>C	ENSP00000438550.1:p.Lys320Asn
NM_000284.3:c.939G>C	NP_000275.1:p.Lys313Asn
NM_001173454.1:c.1053G>C	NP_001166925.1:p.Lys351Asn
NM_001173455.1:c.960G>C	NP_001166926.1:p.Lys320Asn
NM_001173456.1:c.846G>C	NP_001166927.1:p.Lys282Asn
XM_011545531.1:c.1074G>C	XP_011543833.1:p.Lys358Asn
XM_011545532.1:c.981G>C	XP_011543834.1:p.Lys327Asn
XM_017029574.2:c.960G>C	XP_016885063.1:p.Lys320Asn
NM_000284.4:c.939G>C MANE Select	NP_000275.1:p.Lys313Asn
NM_001173454.2:c.1053G>C	NP_001166925.1:p.Lys351Asn
NM_001173455.2:c.960G>C	NP_001166926.1:p.Lys320Asn
NM_001173456.2:c.846G>C	NP_001166927.1:p.Lys282Asn