Canonical Allele Identifier: CA3860188

Gene: GCLC

Linked Data

• ClinVar Variation Id: 715730
• ClinVar RCV Id: RCV003930716 ; RCV000888243
• dbSNP Id: rs80120302
• ExAC: 6:53372323 C / T
• gnomAD v2: 6-53372323-C-T
• gnomAD v3: 6-53507525-C-T
• gnomAD v4: 6-53507525-C-T
• MyVariant Identifiers: chr6:g.53372323C>T (hg19) ; chr6:g.53507525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53507525C>T , CM000668.2:g.53507525C>T	GRCh38
NC_000006.11:g.53372323C>T , CM000668.1:g.53372323C>T	GRCh37
NC_000006.10:g.53480282C>T	NCBI36
NG_012071.1:g.42509G>A
NG_012071.2:g.42605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.925G>A	ENSP00000424211.2:p.Asp309Asn
ENST00000616923.5:c.880G>A	ENSP00000482756.2:p.Asp294Asn
ENST00000643939.1:c.1045G>A	ENSP00000495686.1:p.Asp349Asn
ENST00000650454.1:c.1039G>A MANE Select	ENSP00000497574.1:p.Asp347Asn
ENST00000229416.10:c.1039G>A	ENSP00000229416.6:p.Asp347Asn
ENST00000509541.5:n.1484G>A
ENST00000616923.4:c.925G>A	ENSP00000482756.1:p.Asp309Asn
NM_001197115.1:c.925G>A	NP_001184044.1:p.Asp309Asn
NM_001498.3:c.1039G>A	NP_001489.1:p.Asp347Asn
NM_001498.4:c.1039G>A MANE Select	NP_001489.1:p.Asp347Asn
XM_017010749.1:c.328G>A	XP_016866238.1:p.Asp110Asn
NM_001197115.2:c.925G>A	NP_001184044.1:p.Asp309Asn