Canonical Allele Identifier: CA386888853

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429601G>C (hg19) ; chr12:g.115991796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991796G>C , CM000674.2:g.115991796G>C	GRCh38
NC_000012.11:g.116429601G>C , CM000674.1:g.116429601G>C	GRCh37
NC_000012.10:g.114913984G>C	NCBI36
NG_023366.1:g.290391C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3158C>G MANE Select	ENSP00000281928.3:p.Thr1053Ser
ENST00000548743.2:c.3128C>G	ENSP00000448553.2:p.Thr1043Ser
ENST00000549786.2:c.2586C>G
ENST00000648173.1:n.1953C>G
ENST00000648379.1:n.1526C>G
ENST00000648737.1:n.2922C>G
ENST00000648916.1:n.1169C>G
ENST00000649607.1:c.1342C>G
ENST00000650226.1:c.3158C>G	ENSP00000496981.1:p.Thr1053Ser
ENST00000281928.7:c.3158C>G	ENSP00000281928.3:p.Thr1053Ser
NM_015335.4:c.3158C>G	NP_056150.1:p.Thr1053Ser
XM_011538080.1:c.3158C>G	XP_011536382.1:p.Thr1053Ser
XM_011538081.1:c.3155C>G	XP_011536383.1:p.Thr1052Ser
XM_011538082.1:c.3128C>G	XP_011536384.1:p.Thr1043Ser
XM_011538080.2:c.3158C>G	XP_011536382.1:p.Thr1053Ser
XM_011538081.2:c.3155C>G	XP_011536383.1:p.Thr1052Ser
XM_011538082.2:c.3128C>G	XP_011536384.1:p.Thr1043Ser
XM_017019090.1:c.3155C>G	XP_016874579.1:p.Thr1052Ser
NM_015335.5:c.3158C>G MANE Select	NP_056150.1:p.Thr1053Ser