Canonical Allele Identifier: CA386882746

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116421067A>G (hg19) ; chr12:g.115983262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983262A>G , CM000674.2:g.115983262A>G	GRCh38
NC_000012.11:g.116421067A>G , CM000674.1:g.116421067A>G	GRCh37
NC_000012.10:g.114905450A>G	NCBI36
NG_023366.1:g.298925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4810T>C MANE Select	ENSP00000281928.3:p.Ser1604Pro
ENST00000549786.2:c.4238T>C
ENST00000648379.1:n.3178T>C
ENST00000648737.1:n.4574T>C
ENST00000648825.1:n.1550T>C
ENST00000648916.1:n.2821T>C
ENST00000649146.1:n.1540T>C
ENST00000649607.1:c.2994T>C
ENST00000649775.1:c.1307T>C
ENST00000650226.1:c.4810T>C	ENSP00000496981.1:p.Ser1604Pro
ENST00000281928.7:c.4810T>C	ENSP00000281928.3:p.Ser1604Pro
ENST00000549786.1:c.174T>C
NM_015335.4:c.4810T>C	NP_056150.1:p.Ser1604Pro
XM_011538080.1:c.4810T>C	XP_011536382.1:p.Ser1604Pro
XM_011538081.1:c.4807T>C	XP_011536383.1:p.Ser1603Pro
XM_011538082.1:c.4780T>C	XP_011536384.1:p.Ser1594Pro
XM_011538080.2:c.4810T>C	XP_011536382.1:p.Ser1604Pro
XM_011538081.2:c.4807T>C	XP_011536383.1:p.Ser1603Pro
XM_011538082.2:c.4780T>C	XP_011536384.1:p.Ser1594Pro
XM_017019090.1:c.4807T>C	XP_016874579.1:p.Ser1603Pro
NM_015335.5:c.4810T>C MANE Select	NP_056150.1:p.Ser1604Pro