Canonical Allele Identifier: CA386887753

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429326C>G (hg19) ; chr12:g.115991521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991521C>G , CM000674.2:g.115991521C>G	GRCh38
NC_000012.11:g.116429326C>G , CM000674.1:g.116429326C>G	GRCh37
NC_000012.10:g.114913709C>G	NCBI36
NG_023366.1:g.290666G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3433G>C MANE Select	ENSP00000281928.3:p.Val1145Leu
ENST00000549786.2:c.2861G>C
ENST00000648379.1:n.1801G>C
ENST00000648737.1:n.3197G>C
ENST00000648825.1:n.173G>C
ENST00000648916.1:n.1444G>C
ENST00000649607.1:c.1617G>C
ENST00000650226.1:c.3433G>C	ENSP00000496981.1:p.Val1145Leu
ENST00000281928.7:c.3433G>C	ENSP00000281928.3:p.Val1145Leu
NM_015335.4:c.3433G>C	NP_056150.1:p.Val1145Leu
XM_011538080.1:c.3433G>C	XP_011536382.1:p.Val1145Leu
XM_011538081.1:c.3430G>C	XP_011536383.1:p.Val1144Leu
XM_011538082.1:c.3403G>C	XP_011536384.1:p.Val1135Leu
XM_011538080.2:c.3433G>C	XP_011536382.1:p.Val1145Leu
XM_011538081.2:c.3430G>C	XP_011536383.1:p.Val1144Leu
XM_011538082.2:c.3403G>C	XP_011536384.1:p.Val1135Leu
XM_017019090.1:c.3430G>C	XP_016874579.1:p.Val1144Leu
NM_015335.5:c.3433G>C MANE Select	NP_056150.1:p.Val1145Leu