Canonical Allele Identifier: CA386881056

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420223A>G (hg19) ; chr12:g.115982418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982418A>G , CM000674.2:g.115982418A>G	GRCh38
NC_000012.11:g.116420223A>G , CM000674.1:g.116420223A>G	GRCh37
NC_000012.10:g.114904606A>G	NCBI36
NG_023366.1:g.299769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5141T>C MANE Select	ENSP00000281928.3:p.Leu1714Ser
ENST00000549786.2:c.4569T>C
ENST00000648379.1:n.3509T>C
ENST00000648737.1:n.4905T>C
ENST00000648825.1:n.1881T>C
ENST00000648916.1:n.3152T>C
ENST00000649146.1:n.2384T>C
ENST00000649607.1:c.3325T>C
ENST00000649775.1:c.1630T>C
ENST00000650226.1:c.5141T>C	ENSP00000496981.1:p.Leu1714Ser
ENST00000281928.7:c.5141T>C	ENSP00000281928.3:p.Leu1714Ser
ENST00000549786.1:c.505T>C
ENST00000552340.1:c.173T>C	ENSP00000449876.1:p.Leu58Ser
NM_015335.4:c.5141T>C	NP_056150.1:p.Leu1714Ser
XM_011538080.1:c.5141T>C	XP_011536382.1:p.Leu1714Ser
XM_011538081.1:c.5138T>C	XP_011536383.1:p.Leu1713Ser
XM_011538082.1:c.5111T>C	XP_011536384.1:p.Leu1704Ser
XM_011538080.2:c.5141T>C	XP_011536382.1:p.Leu1714Ser
XM_011538081.2:c.5138T>C	XP_011536383.1:p.Leu1713Ser
XM_011538082.2:c.5111T>C	XP_011536384.1:p.Leu1704Ser
XM_017019090.1:c.5138T>C	XP_016874579.1:p.Leu1713Ser
NM_015335.5:c.5141T>C MANE Select	NP_056150.1:p.Leu1714Ser