Canonical Allele Identifier: CA4980443

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1582365
• ClinVar RCV Id: RCV002091017
• dbSNP Id: rs774506115
• ExAC: 9:6558592 A / G
• gnomAD v2: 9-6558592-A-G
• gnomAD v3: 9-6558592-A-G
• gnomAD v4: 9-6558592-A-G
• MyVariant Identifiers: chr9:g.6558592A>G (hg19) ; chr9:g.6558592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558592A>G , CM000671.2:g.6558592A>G	GRCh38
NC_000009.11:g.6558592A>G , CM000671.1:g.6558592A>G	GRCh37
NC_000009.10:g.6548592A>G	NCBI36
NG_016397.1:g.92101T>C , LRG_643:g.92101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2019T>C MANE Select	ENSP00000370737.4:p.Tyr673=
ENST00000460457.2:n.179T>C
ENST00000638233.1:n.454T>C
ENST00000638661.1:c.219T>C	ENSP00000491369.1:p.Tyr73=
ENST00000638694.1:n.206T>C
ENST00000639318.1:c.219T>C	ENSP00000491932.1:p.Tyr73=
ENST00000639364.1:n.1719T>C
ENST00000639443.1:n.1587T>C
ENST00000639954.1:n.1727T>C
ENST00000640208.1:c.219T>C	ENSP00000491895.1:p.Tyr73=
ENST00000640505.1:n.258T>C
ENST00000640592.1:n.1902T>C
ENST00000321612.6:c.2019T>C	ENSP00000370737.3:p.Tyr673=
ENST00000460457.1:n.158T>C
NM_000170.2:c.2019T>C , LRG_643t1:c.2019T>C	NP_000161.2:p.Tyr673=
NM_000170.3:c.2019T>C MANE Select	NP_000161.2:p.Tyr673=