Canonical Allele Identifier: CA372880401

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6554769G>T (hg19) ; chr9:g.6554769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554769G>T , CM000671.2:g.6554769G>T	GRCh38
NC_000009.11:g.6554769G>T , CM000671.1:g.6554769G>T	GRCh37
NC_000009.10:g.6544769G>T	NCBI36
NG_016397.1:g.95924C>A , LRG_643:g.95924C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2215C>A MANE Select	ENSP00000370737.4:p.Arg739Ser
ENST00000638233.1:n.650C>A
ENST00000638661.1:c.415C>A	ENSP00000491369.1:p.Arg139Ser
ENST00000638694.1:n.402C>A
ENST00000639318.1:c.415C>A	ENSP00000491932.1:p.Arg139Ser
ENST00000639364.1:n.1915C>A
ENST00000639443.1:n.1783C>A
ENST00000639639.1:c.-84C>A	ENSP00000491312.1:n.-84C>A
ENST00000639954.1:n.1923C>A
ENST00000640505.1:n.454C>A
ENST00000321612.6:c.2215C>A	ENSP00000370737.3:p.Arg739Ser
ENST00000467946.1:n.141C>A
NM_000170.2:c.2215C>A , LRG_643t1:c.2215C>A	NP_000161.2:p.Arg739Ser
NM_000170.3:c.2215C>A MANE Select	NP_000161.2:p.Arg739Ser