Canonical Allele Identifier: CA5911450

Gene: LDHA

Linked Data

• dbSNP Id: rs763264028
• ExAC: 11:18428820 C / T
• gnomAD v2: 11-18428820-C-T
• gnomAD v4: 11-18407273-C-T
• MyVariant Identifiers: chr11:g.18428820C>T (hg19) ; chr11:g.18407273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18407273C>T , CM000673.2:g.18407273C>T	GRCh38
NC_000011.9:g.18428820C>T , CM000673.1:g.18428820C>T	GRCh37
NC_000011.8:g.18385396C>T	NCBI36
NG_008185.1:g.17839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422447.8:c.991C>T MANE Select	ENSP00000395337.3:p.Gln331Ter
ENST00000227157.8:c.*141C>T	ENSP00000227157.4:n.*141C>T
ENST00000375710.7:n.1858C>T
ENST00000379412.9:c.991C>T	ENSP00000368722.5:p.Gln331Ter
ENST00000396222.6:c.722C>T	ENSP00000379524.2:p.Ala241Val
ENST00000422447.7:c.991C>T	ENSP00000395337.3:p.Gln331Ter
ENST00000430553.6:c.817C>T	ENSP00000406172.2:p.Gln273Ter
ENST00000538451.1:n.878C>T
ENST00000540430.5:c.1078C>T	ENSP00000445175.1:p.Gln360Ter
ENST00000542179.1:c.991C>T	ENSP00000445331.1:p.Gln331Ter
ENST00000545215.5:c.*735C>T	ENSP00000442637.1:n.*735C>T
NM_001135239.1:c.817C>T	NP_001128711.1:p.Gln273Ter
NM_001165414.1:c.1078C>T	NP_001158886.1:p.Gln360Ter
NM_001165415.1:c.722C>T	NP_001158887.1:p.Ala241Val
NM_001165416.1:c.*141C>T	NP_001158888.1:n.*141C>T
NM_005566.3:c.991C>T	NP_005557.1:p.Gln331Ter
NR_028500.1:n.1145C>T
NM_005566.4:c.991C>T MANE Select	NP_005557.1:p.Gln331Ter
NM_001165415.2:c.722C>T	NP_001158887.1:p.Ala241Val
NM_001135239.2:c.817C>T	NP_001128711.1:p.Gln273Ter
NM_001165414.2:c.1078C>T	NP_001158886.1:p.Gln360Ter
NM_001165416.2:c.*141C>T	NP_001158888.1:n.*141C>T
NR_028500.2:n.971C>T