Canonical Allele Identifier: CA4980387
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs778298626
gnomAD v2: 9-6556247-T-C
gnomAD v3: 9-6556247-T-C
gnomAD v4: 9-6556247-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556247T>C , CM000671.2:g.6556247T>C GRCh38
NC_000009.11:g.6556247T>C , CM000671.1:g.6556247T>C GRCh37
NC_000009.10:g.6546247T>C NCBI36
NG_016397.1:g.94446A>G , LRG_643:g.94446A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2108A>G MANE Select ENSP00000370737.4:p.Asn703Ser
ENST00000638233.1:n.543A>G
ENST00000638661.1:c.308A>G ENSP00000491369.1:p.Asn103Ser
ENST00000638694.1:n.295A>G
ENST00000639318.1:c.308A>G ENSP00000491932.1:p.Asn103Ser
ENST00000639364.1:n.1808A>G
ENST00000639443.1:n.1676A>G
ENST00000639954.1:n.1816A>G
ENST00000640505.1:n.347A>G
ENST00000321612.6:c.2108A>G ENSP00000370737.3:p.Asn703Ser
NM_000170.2:c.2108A>G , LRG_643t1:c.2108A>G NP_000161.2:p.Asn703Ser
NM_000170.3:c.2108A>G MANE Select NP_000161.2:p.Asn703Ser