Canonical Allele Identifier: CA1139661855

Gene: LDHA

Linked Data

• ClinVar Variation Id: 878057
• ClinVar RCV Id: RCV001104340
• dbSNP Id: rs1866727073

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18407329C>T , CM000673.2:g.18407329C>T	GRCh38
NC_000011.9:g.18428876C>T , CM000673.1:g.18428876C>T	GRCh37
NC_000011.8:g.18385452C>T	NCBI36
NG_008185.1:g.17895C>T
NG_011816.1:g.24C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422447.8:c.*48C>T MANE Select	ENSP00000395337.3:n.*48C>T
ENST00000227157.8:c.*197C>T	ENSP00000227157.4:n.*197C>T
ENST00000375710.7:n.1914C>T
ENST00000379412.9:c.*48C>T	ENSP00000368722.5:n.*48C>T
ENST00000396222.6:c.778C>T	ENSP00000379524.2:p.Leu260=
ENST00000422447.7:c.*48C>T	ENSP00000395337.3:n.*48C>T
ENST00000430553.6:c.*48C>T	ENSP00000406172.2:n.*48C>T
ENST00000538451.1:n.934C>T
ENST00000540430.5:c.*48C>T	ENSP00000445175.1:n.*48C>T
ENST00000545215.5:c.*791C>T	ENSP00000442637.1:n.*791C>T
NM_001135239.1:c.*48C>T	NP_001128711.1:n.*48C>T
NM_001165414.1:c.*48C>T	NP_001158886.1:n.*48C>T
NM_001165415.1:c.778C>T	NP_001158887.1:p.Leu260=
NM_001165416.1:c.*197C>T	NP_001158888.1:n.*197C>T
NM_005566.3:c.*48C>T	NP_005557.1:n.*48C>T
NR_028500.1:n.1201C>T
NM_005566.4:c.*48C>T MANE Select	NP_005557.1:n.*48C>T
NM_001165415.2:c.778C>T	NP_001158887.1:p.Leu260=
NM_001135239.2:c.*48C>T	NP_001128711.1:n.*48C>T
NM_001165414.2:c.*48C>T	NP_001158886.1:n.*48C>T
NM_001165416.2:c.*197C>T	NP_001158888.1:n.*197C>T
NR_028500.2:n.1027C>T