Canonical Allele Identifier: CA5911434

Gene: LDHA

Linked Data

• dbSNP Id: rs752750333
• ExAC: 11:18428694 C / T
• gnomAD v2: 11-18428694-C-T
• gnomAD v4: 11-18407147-C-T
• MyVariant Identifiers: chr11:g.18428694C>T (hg19) ; chr11:g.18407147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18407147C>T , CM000673.2:g.18407147C>T	GRCh38
NC_000011.9:g.18428694C>T , CM000673.1:g.18428694C>T	GRCh37
NC_000011.8:g.18385270C>T	NCBI36
NG_008185.1:g.17713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422447.8:c.865C>T MANE Select	ENSP00000395337.3:p.Leu289Phe
ENST00000227157.8:c.*15C>T	ENSP00000227157.4:n.*15C>T
ENST00000375710.7:n.1732C>T
ENST00000379412.9:c.865C>T	ENSP00000368722.5:p.Leu289Phe
ENST00000396222.6:c.688-92C>T	ENSP00000379524.2:n.688-92C>T
ENST00000422447.7:c.865C>T	ENSP00000395337.3:p.Leu289Phe
ENST00000430553.6:c.691C>T	ENSP00000406172.2:p.Leu231Phe
ENST00000538451.1:n.752C>T
ENST00000540430.5:c.952C>T	ENSP00000445175.1:p.Leu318Phe
ENST00000541097.5:c.*203C>T	ENSP00000443362.1:n.*203C>T
ENST00000542179.1:c.865C>T	ENSP00000445331.1:p.Leu289Phe
ENST00000545215.5:c.*609C>T	ENSP00000442637.1:n.*609C>T
NM_001135239.1:c.691C>T	NP_001128711.1:p.Leu231Phe
NM_001165414.1:c.952C>T	NP_001158886.1:p.Leu318Phe
NM_001165415.1:c.688-92C>T	NP_001158887.1:n.688-92C>T
NM_001165416.1:c.*15C>T	NP_001158888.1:n.*15C>T
NM_005566.3:c.865C>T	NP_005557.1:p.Leu289Phe
NR_028500.1:n.1019C>T
NM_005566.4:c.865C>T MANE Select	NP_005557.1:p.Leu289Phe
NM_001165415.2:c.688-92C>T	NP_001158887.1:n.688-92C>T
NM_001135239.2:c.691C>T	NP_001128711.1:p.Leu231Phe
NM_001165414.2:c.952C>T	NP_001158886.1:p.Leu318Phe
NM_001165416.2:c.*15C>T	NP_001158888.1:n.*15C>T
NR_028500.2:n.845C>T