Canonical Allele Identifier: CA3860227
Gene: GCLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53508688G>C , CM000668.2:g.53508688G>C GRCh38
NC_000006.11:g.53373486G>C , CM000668.1:g.53373486G>C GRCh37
NC_000006.10:g.53481445G>C NCBI36
NG_012071.1:g.41346C>G
NG_012071.2:g.41442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513939.6:c.738C>G ENSP00000424211.2:p.Pro246=
ENST00000616923.5:c.693C>G ENSP00000482756.2:p.Pro231=
ENST00000643939.1:c.858C>G ENSP00000495686.1:p.Pro286=
ENST00000650454.1:c.852C>G MANE Select ENSP00000497574.1:p.Pro284=
ENST00000229416.10:c.852C>G ENSP00000229416.6:p.Pro284=
ENST00000504525.1:c.*312C>G ENSP00000421228.1:n.*312C>G
ENST00000509541.5:n.1297C>G
ENST00000616923.4:c.738C>G ENSP00000482756.1:p.Pro246=
NM_001197115.1:c.738C>G NP_001184044.1:p.Pro246=
NM_001498.3:c.852C>G NP_001489.1:p.Pro284=
NM_001498.4:c.852C>G MANE Select NP_001489.1:p.Pro284=
XM_017010749.1:c.141C>G XP_016866238.1:p.Pro47=
NM_001197115.2:c.738C>G NP_001184044.1:p.Pro246=