Canonical Allele Identifier: CA386882248

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420386C>A (hg19) ; chr12:g.115982581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982581C>A , CM000674.2:g.115982581C>A	GRCh38
NC_000012.11:g.116420386C>A , CM000674.1:g.116420386C>A	GRCh37
NC_000012.10:g.114904769C>A	NCBI36
NG_023366.1:g.299606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4978G>T MANE Select	ENSP00000281928.3:p.Gly1660Ter
ENST00000549786.2:c.4406G>T
ENST00000648379.1:n.3346G>T
ENST00000648737.1:n.4742G>T
ENST00000648825.1:n.1718G>T
ENST00000648916.1:n.2989G>T
ENST00000649146.1:n.2221G>T
ENST00000649607.1:c.3162G>T
ENST00000649775.1:c.1467G>T
ENST00000650226.1:c.4978G>T	ENSP00000496981.1:p.Gly1660Ter
ENST00000281928.7:c.4978G>T	ENSP00000281928.3:p.Gly1660Ter
ENST00000549786.1:c.342G>T
ENST00000552340.1:c.10G>T	ENSP00000449876.1:p.Gly4Ter
NM_015335.4:c.4978G>T	NP_056150.1:p.Gly1660Ter
XM_011538080.1:c.4978G>T	XP_011536382.1:p.Gly1660Ter
XM_011538081.1:c.4975G>T	XP_011536383.1:p.Gly1659Ter
XM_011538082.1:c.4948G>T	XP_011536384.1:p.Gly1650Ter
XM_011538080.2:c.4978G>T	XP_011536382.1:p.Gly1660Ter
XM_011538081.2:c.4975G>T	XP_011536383.1:p.Gly1659Ter
XM_011538082.2:c.4948G>T	XP_011536384.1:p.Gly1650Ter
XM_017019090.1:c.4975G>T	XP_016874579.1:p.Gly1659Ter
NM_015335.5:c.4978G>T MANE Select	NP_056150.1:p.Gly1660Ter