Canonical Allele Identifier: CA372881800

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558559C>A (hg19) ; chr9:g.6558559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558559C>A , CM000671.2:g.6558559C>A	GRCh38
NC_000009.11:g.6558559C>A , CM000671.1:g.6558559C>A	GRCh37
NC_000009.10:g.6548559C>A	NCBI36
NG_016397.1:g.92134G>T , LRG_643:g.92134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052G>T MANE Select	ENSP00000370737.4:p.Met684Ile
ENST00000460457.2:n.212G>T
ENST00000638233.1:n.487G>T
ENST00000638661.1:c.252G>T	ENSP00000491369.1:p.Met84Ile
ENST00000638694.1:n.239G>T
ENST00000639318.1:c.252G>T	ENSP00000491932.1:p.Met84Ile
ENST00000639364.1:n.1752G>T
ENST00000639443.1:n.1620G>T
ENST00000639954.1:n.1760G>T
ENST00000640208.1:c.252G>T	ENSP00000491895.1:p.Met84Ile
ENST00000640505.1:n.291G>T
ENST00000640592.1:n.1935G>T
ENST00000321612.6:c.2052G>T	ENSP00000370737.3:p.Met684Ile
ENST00000460457.1:n.191G>T
NM_000170.2:c.2052G>T , LRG_643t1:c.2052G>T	NP_000161.2:p.Met684Ile
NM_000170.3:c.2052G>T MANE Select	NP_000161.2:p.Met684Ile