Canonical Allele Identifier: CA450448712

Gene: GCLC

Linked Data

• gnomAD v4: 6-53506913-C-T
• MyVariant Identifiers: chr6:g.53371711C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53506913C>T , CM000668.2:g.53506913C>T	GRCh38
NC_000006.11:g.53371711C>T , CM000668.1:g.53371711C>T	GRCh37
NC_000006.10:g.53479670C>T	NCBI36
NG_012071.1:g.43121G>A
NG_012071.2:g.43217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.1083G>A	ENSP00000424211.2:p.Glu361=
ENST00000616923.5:c.1038G>A	ENSP00000482756.2:p.Glu346=
ENST00000643939.1:c.1203G>A	ENSP00000495686.1:p.Glu401=
ENST00000650454.1:c.1197G>A MANE Select	ENSP00000497574.1:p.Glu399=
ENST00000229416.10:c.1197G>A	ENSP00000229416.6:p.Glu399=
ENST00000504353.1:n.166G>A
ENST00000509541.5:n.1642G>A
ENST00000616923.4:c.1083G>A	ENSP00000482756.1:p.Glu361=
NM_001197115.1:c.1083G>A	NP_001184044.1:p.Glu361=
NM_001498.3:c.1197G>A	NP_001489.1:p.Glu399=
NM_001498.4:c.1197G>A MANE Select	NP_001489.1:p.Glu399=
XM_017010749.1:c.486G>A	XP_016866238.1:p.Glu162=
NM_001197115.2:c.1083G>A	NP_001184044.1:p.Glu361=