Canonical Allele Identifier: CA372881874

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558595T>A (hg19) ; chr9:g.6558595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558595T>A , CM000671.2:g.6558595T>A	GRCh38
NC_000009.11:g.6558595T>A , CM000671.1:g.6558595T>A	GRCh37
NC_000009.10:g.6548595T>A	NCBI36
NG_016397.1:g.92098A>T , LRG_643:g.92098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2016A>T MANE Select	ENSP00000370737.4:p.Lys672Asn
ENST00000460457.2:n.176A>T
ENST00000638233.1:n.451A>T
ENST00000638661.1:c.216A>T	ENSP00000491369.1:p.Lys72Asn
ENST00000638694.1:n.203A>T
ENST00000639318.1:c.216A>T	ENSP00000491932.1:p.Lys72Asn
ENST00000639364.1:n.1716A>T
ENST00000639443.1:n.1584A>T
ENST00000639954.1:n.1724A>T
ENST00000640208.1:c.216A>T	ENSP00000491895.1:p.Lys72Asn
ENST00000640505.1:n.255A>T
ENST00000640592.1:n.1899A>T
ENST00000321612.6:c.2016A>T	ENSP00000370737.3:p.Lys672Asn
ENST00000460457.1:n.155A>T
NM_000170.2:c.2016A>T , LRG_643t1:c.2016A>T	NP_000161.2:p.Lys672Asn
NM_000170.3:c.2016A>T MANE Select	NP_000161.2:p.Lys672Asn