Canonical Allele Identifier: CA364471344

Gene: GCLC

Linked Data

• gnomAD v4: 6-53506914-T-A
• MyVariant Identifiers: chr6:g.53371712T>A (hg19) ; chr6:g.53506914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53506914T>A , CM000668.2:g.53506914T>A	GRCh38
NC_000006.11:g.53371712T>A , CM000668.1:g.53371712T>A	GRCh37
NC_000006.10:g.53479671T>A	NCBI36
NG_012071.1:g.43120A>T
NG_012071.2:g.43216A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.1082A>T	ENSP00000424211.2:p.Glu361Val
ENST00000616923.5:c.1037A>T	ENSP00000482756.2:p.Glu346Val
ENST00000643939.1:c.1202A>T	ENSP00000495686.1:p.Glu401Val
ENST00000650454.1:c.1196A>T MANE Select	ENSP00000497574.1:p.Glu399Val
ENST00000229416.10:c.1196A>T	ENSP00000229416.6:p.Glu399Val
ENST00000504353.1:n.165A>T
ENST00000509541.5:n.1641A>T
ENST00000616923.4:c.1082A>T	ENSP00000482756.1:p.Glu361Val
NM_001197115.1:c.1082A>T	NP_001184044.1:p.Glu361Val
NM_001498.3:c.1196A>T	NP_001489.1:p.Glu399Val
NM_001498.4:c.1196A>T MANE Select	NP_001489.1:p.Glu399Val
XM_017010749.1:c.485A>T	XP_016866238.1:p.Glu162Val
NM_001197115.2:c.1082A>T	NP_001184044.1:p.Glu361Val