Canonical Allele Identifier: CA412396222

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377106G>C (hg19) ; chrX:g.19358988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358988G>C , CM000685.2:g.19358988G>C	GRCh38
NC_000023.10:g.19377106G>C , CM000685.1:g.19377106G>C	GRCh37
NC_000023.9:g.19287027G>C	NCBI36
NG_016781.1:g.20096G>C
NG_021184.1:g.161274C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.993G>C	ENSP00000348062.6:p.Met331Ile
ENST00000379805.4:c.*664G>C	ENSP00000369133.3:n.*664G>C
ENST00000417819.6:c.1056G>C	ENSP00000404616.2:p.Met352Ile
ENST00000423505.6:c.1086G>C	ENSP00000406473.2:p.Met362Ile
ENST00000481733.2:n.767G>C
ENST00000696704.1:c.*304G>C	ENSP00000512823.1:n.*304G>C
ENST00000696705.1:c.*427G>C	ENSP00000512824.1:n.*427G>C
ENST00000422285.7:c.972G>C MANE Select	ENSP00000394382.2:p.Met324Ile
ENST00000379804.1:c.129G>C	ENSP00000369132.1:p.Met43Ile
ENST00000379806.9:c.1086G>C	ENSP00000369134.5:p.Met362Ile
ENST00000422285.6:c.972G>C	ENSP00000394382.2:p.Met324Ile
ENST00000478795.1:n.411G>C
ENST00000481733.1:n.400G>C
ENST00000540249.5:c.879G>C	ENSP00000440761.1:p.Met293Ile
ENST00000545074.5:c.993G>C	ENSP00000438550.1:p.Met331Ile
NM_000284.3:c.972G>C	NP_000275.1:p.Met324Ile
NM_001173454.1:c.1086G>C	NP_001166925.1:p.Met362Ile
NM_001173455.1:c.993G>C	NP_001166926.1:p.Met331Ile
NM_001173456.1:c.879G>C	NP_001166927.1:p.Met293Ile
XM_011545531.1:c.1107G>C	XP_011543833.1:p.Met369Ile
XM_011545532.1:c.1014G>C	XP_011543834.1:p.Met338Ile
XM_017029574.2:c.993G>C	XP_016885063.1:p.Met331Ile
NM_000284.4:c.972G>C MANE Select	NP_000275.1:p.Met324Ile
NM_001173454.2:c.1086G>C	NP_001166925.1:p.Met362Ile
NM_001173455.2:c.993G>C	NP_001166926.1:p.Met331Ile
NM_001173456.2:c.879G>C	NP_001166927.1:p.Met293Ile