Canonical Allele Identifier: CA463585599

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2161694
• ClinVar RCV Id: RCV003078702
• MyVariant Identifiers: chr9:g.6558586A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558586A>G , CM000671.2:g.6558586A>G	GRCh38
NC_000009.11:g.6558586A>G , CM000671.1:g.6558586A>G	GRCh37
NC_000009.10:g.6548586A>G	NCBI36
NG_016397.1:g.92107T>C , LRG_643:g.92107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2025T>C MANE Select	ENSP00000370737.4:p.Asn675=
ENST00000460457.2:n.185T>C
ENST00000638233.1:n.460T>C
ENST00000638661.1:c.225T>C	ENSP00000491369.1:p.Asn75=
ENST00000638694.1:n.212T>C
ENST00000639318.1:c.225T>C	ENSP00000491932.1:p.Asn75=
ENST00000639364.1:n.1725T>C
ENST00000639443.1:n.1593T>C
ENST00000639954.1:n.1733T>C
ENST00000640208.1:c.225T>C	ENSP00000491895.1:p.Asn75=
ENST00000640505.1:n.264T>C
ENST00000640592.1:n.1908T>C
ENST00000321612.6:c.2025T>C	ENSP00000370737.3:p.Asn675=
ENST00000460457.1:n.164T>C
NM_000170.2:c.2025T>C , LRG_643t1:c.2025T>C	NP_000161.2:p.Asn675=
NM_000170.3:c.2025T>C MANE Select	NP_000161.2:p.Asn675=