Canonical Allele Identifier: CA4980220

Gene: GLDC

Linked Data

• dbSNP Id: rs755854739
• ExAC: 9:6553327 C / T
• gnomAD v2: 9-6553327-C-T
• gnomAD v4: 9-6553327-C-T
• MyVariant Identifiers: chr9:g.6553327C>T (hg19) ; chr9:g.6553327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553327C>T , CM000671.2:g.6553327C>T	GRCh38
NC_000009.11:g.6553327C>T , CM000671.1:g.6553327C>T	GRCh37
NC_000009.10:g.6543327C>T	NCBI36
NG_016397.1:g.97366G>A , LRG_643:g.97366G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2457+41G>A MANE Select	ENSP00000370737.4:n.2457+41G>A
ENST00000638233.1:n.892+41G>A
ENST00000638661.1:c.657+41G>A	ENSP00000491369.1:n.657+41G>A
ENST00000638694.1:n.644+41G>A
ENST00000639318.1:c.657+41G>A	ENSP00000491932.1:n.657+41G>A
ENST00000639364.1:n.2157+41G>A
ENST00000639443.1:n.2025+41G>A
ENST00000639639.1:c.159+41G>A	ENSP00000491312.1:n.159+41G>A
ENST00000639954.1:n.2165+41G>A
ENST00000640505.1:n.696+41G>A
ENST00000321612.6:c.2457+41G>A	ENSP00000370737.3:n.2457+41G>A
NM_000170.2:c.2457+41G>A , LRG_643t1:c.2457+41G>A	NP_000161.2:n.2457+41G>A
NM_000170.3:c.2457+41G>A MANE Select	NP_000161.2:n.2457+41G>A