Canonical Allele Identifier: CA372878480

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6553429G>T (hg19) ; chr9:g.6553429G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553429G>T , CM000671.2:g.6553429G>T	GRCh38
NC_000009.11:g.6553429G>T , CM000671.1:g.6553429G>T	GRCh37
NC_000009.10:g.6543429G>T	NCBI36
NG_016397.1:g.97264C>A , LRG_643:g.97264C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2396C>A MANE Select	ENSP00000370737.4:p.Thr799Asn
ENST00000638233.1:n.831C>A
ENST00000638661.1:c.596C>A	ENSP00000491369.1:p.Thr199Asn
ENST00000638694.1:n.583C>A
ENST00000639318.1:c.596C>A	ENSP00000491932.1:p.Thr199Asn
ENST00000639364.1:n.2096C>A
ENST00000639443.1:n.1964C>A
ENST00000639639.1:c.98C>A	ENSP00000491312.1:p.Thr33Asn
ENST00000639954.1:n.2104C>A
ENST00000640505.1:n.635C>A
ENST00000321612.6:c.2396C>A	ENSP00000370737.3:p.Thr799Asn
NM_000170.2:c.2396C>A , LRG_643t1:c.2396C>A	NP_000161.2:p.Thr799Asn
NM_000170.3:c.2396C>A MANE Select	NP_000161.2:p.Thr799Asn