Canonical Allele Identifier: CA372881956

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558632A>T (hg19) ; chr9:g.6558632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558632A>T , CM000671.2:g.6558632A>T	GRCh38
NC_000009.11:g.6558632A>T , CM000671.1:g.6558632A>T	GRCh37
NC_000009.10:g.6548632A>T	NCBI36
NG_016397.1:g.92061T>A , LRG_643:g.92061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1979T>A MANE Select	ENSP00000370737.4:p.Met660Lys
ENST00000460457.2:n.139T>A
ENST00000638233.1:n.414T>A
ENST00000638661.1:c.179T>A	ENSP00000491369.1:p.Met60Lys
ENST00000638694.1:n.166T>A
ENST00000639318.1:c.179T>A	ENSP00000491932.1:p.Met60Lys
ENST00000639364.1:n.1679T>A
ENST00000639443.1:n.1547T>A
ENST00000639954.1:n.1687T>A
ENST00000640208.1:c.179T>A	ENSP00000491895.1:p.Met60Lys
ENST00000640505.1:n.218T>A
ENST00000640592.1:n.1862T>A
ENST00000321612.6:c.1979T>A	ENSP00000370737.3:p.Met660Lys
ENST00000460457.1:n.118T>A
NM_000170.2:c.1979T>A , LRG_643t1:c.1979T>A	NP_000161.2:p.Met660Lys
NM_000170.3:c.1979T>A MANE Select	NP_000161.2:p.Met660Lys