Canonical Allele Identifier: CA3860347

Gene: GCLC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53516141T>C , CM000668.2:g.53516141T>C	GRCh38
NC_000006.11:g.53380939T>C , CM000668.1:g.53380939T>C	GRCh37
NC_000006.10:g.53488898T>C	NCBI36
NG_012071.1:g.33893A>G
NG_012071.2:g.33989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.447-1644A>G	ENSP00000424211.2:n.447-1644A>G
ENST00000514933.2:n.459A>G
ENST00000616923.5:c.369A>G	ENSP00000482756.2:p.Pro123=
ENST00000643939.1:c.534A>G	ENSP00000495686.1:p.Pro178=
ENST00000650454.1:c.528A>G MANE Select	ENSP00000497574.1:p.Pro176=
ENST00000229416.10:c.528A>G	ENSP00000229416.6:p.Pro176=
ENST00000504525.1:c.151-1609A>G	ENSP00000421228.1:n.151-1609A>G
ENST00000505294.5:c.364A>G	ENSP00000421629.1:p.Arg122Gly
ENST00000513939.5:c.410-1644A>G
ENST00000514004.5:c.528A>G	ENSP00000421908.1:p.Pro176=
ENST00000514933.1:c.369A>G	ENSP00000423615.1:p.Pro123=
ENST00000616923.4:c.447-1644A>G	ENSP00000482756.1:n.447-1644A>G
NM_001197115.1:c.447-1644A>G	NP_001184044.1:n.447-1644A>G
NM_001498.3:c.528A>G	NP_001489.1:p.Pro176=
NM_001498.4:c.528A>G MANE Select	NP_001489.1:p.Pro176=
XM_017010749.1:c.-219A>G	XP_016866238.1:n.-219A>G
NM_001197115.2:c.447-1644A>G	NP_001184044.1:n.447-1644A>G