Canonical Allele Identifier: CA463585883
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6558670C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558670C>G , CM000671.2:g.6558670C>G GRCh38
NC_000009.11:g.6558670C>G , CM000671.1:g.6558670C>G GRCh37
NC_000009.10:g.6548670C>G NCBI36
NG_016397.1:g.92023G>C , LRG_643:g.92023G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1941G>C MANE Select ENSP00000370737.4:p.Pro647=
ENST00000460457.2:n.101G>C
ENST00000638233.1:n.376G>C
ENST00000638661.1:c.141G>C ENSP00000491369.1:p.Pro47=
ENST00000638694.1:n.128G>C
ENST00000639318.1:c.141G>C ENSP00000491932.1:p.Pro47=
ENST00000639364.1:n.1641G>C
ENST00000639443.1:n.1509G>C
ENST00000639954.1:n.1649G>C
ENST00000640208.1:c.141G>C ENSP00000491895.1:p.Pro47=
ENST00000640505.1:n.180G>C
ENST00000640592.1:n.1824G>C
ENST00000321612.6:c.1941G>C ENSP00000370737.3:p.Pro647=
ENST00000460457.1:n.80G>C
NM_000170.2:c.1941G>C , LRG_643t1:c.1941G>C NP_000161.2:p.Pro647=
NM_000170.3:c.1941G>C MANE Select NP_000161.2:p.Pro647=