Canonical Allele Identifier: CA386882720

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116421061C>A (hg19) ; chr12:g.115983256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983256C>A , CM000674.2:g.115983256C>A	GRCh38
NC_000012.11:g.116421061C>A , CM000674.1:g.116421061C>A	GRCh37
NC_000012.10:g.114905444C>A	NCBI36
NG_023366.1:g.298931G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4816G>T MANE Select	ENSP00000281928.3:p.Gly1606Ter
ENST00000549786.2:c.4244G>T
ENST00000648379.1:n.3184G>T
ENST00000648737.1:n.4580G>T
ENST00000648825.1:n.1556G>T
ENST00000648916.1:n.2827G>T
ENST00000649146.1:n.1546G>T
ENST00000649607.1:c.3000G>T
ENST00000649775.1:c.1313G>T
ENST00000650226.1:c.4816G>T	ENSP00000496981.1:p.Gly1606Ter
ENST00000281928.7:c.4816G>T	ENSP00000281928.3:p.Gly1606Ter
ENST00000549786.1:c.180G>T
NM_015335.4:c.4816G>T	NP_056150.1:p.Gly1606Ter
XM_011538080.1:c.4816G>T	XP_011536382.1:p.Gly1606Ter
XM_011538081.1:c.4813G>T	XP_011536383.1:p.Gly1605Ter
XM_011538082.1:c.4786G>T	XP_011536384.1:p.Gly1596Ter
XM_011538080.2:c.4816G>T	XP_011536382.1:p.Gly1606Ter
XM_011538081.2:c.4813G>T	XP_011536383.1:p.Gly1605Ter
XM_011538082.2:c.4786G>T	XP_011536384.1:p.Gly1596Ter
XM_017019090.1:c.4813G>T	XP_016874579.1:p.Gly1605Ter
NM_015335.5:c.4816G>T MANE Select	NP_056150.1:p.Gly1606Ter