LDH info

Canonical Allele Identifier: CA127011
Gene: GJA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16982
ClinVar RCV Id: RCV000018503
dbSNP Id: rs104893961

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446897A>C , CM000668.2:g.121446897A>C GRCh38
NC_000006.11:g.121768043A>C , CM000668.1:g.121768043A>C GRCh37
NC_000006.10:g.121809742A>C NCBI36
NG_008308.1:g.16299A>C

Transcript Alleles

HGVS Amino-acid change
NM_000165.4:c.50A>C VV NP_000156.1:p.Tyr17Ser
NM_000165.5:c.50A>C VV NP_000156.1:p.Tyr17Ser
ENST00000282561.3:c.50A>C ENSP00000282561.3:p.Tyr17Ser