Canonical Allele Identifier: CA386882340

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420407C>G (hg19) ; chr12:g.115982602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982602C>G , CM000674.2:g.115982602C>G	GRCh38
NC_000012.11:g.116420407C>G , CM000674.1:g.116420407C>G	GRCh37
NC_000012.10:g.114904790C>G	NCBI36
NG_023366.1:g.299585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4957G>C MANE Select	ENSP00000281928.3:p.Val1653Leu
ENST00000549786.2:c.4385G>C
ENST00000648379.1:n.3325G>C
ENST00000648737.1:n.4721G>C
ENST00000648825.1:n.1697G>C
ENST00000648916.1:n.2968G>C
ENST00000649146.1:n.2200G>C
ENST00000649607.1:c.3141G>C
ENST00000649775.1:c.1453-7G>C
ENST00000650226.1:c.4957G>C	ENSP00000496981.1:p.Val1653Leu
ENST00000281928.7:c.4957G>C	ENSP00000281928.3:p.Val1653Leu
ENST00000549786.1:c.321G>C
NM_015335.4:c.4957G>C	NP_056150.1:p.Val1653Leu
XM_011538080.1:c.4957G>C	XP_011536382.1:p.Val1653Leu
XM_011538081.1:c.4954G>C	XP_011536383.1:p.Val1652Leu
XM_011538082.1:c.4927G>C	XP_011536384.1:p.Val1643Leu
XM_011538080.2:c.4957G>C	XP_011536382.1:p.Val1653Leu
XM_011538081.2:c.4954G>C	XP_011536383.1:p.Val1652Leu
XM_011538082.2:c.4927G>C	XP_011536384.1:p.Val1643Leu
XM_017019090.1:c.4954G>C	XP_016874579.1:p.Val1652Leu
NM_015335.5:c.4957G>C MANE Select	NP_056150.1:p.Val1653Leu