Canonical Allele Identifier: CA386881051

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420221G>C (hg19) ; chr12:g.115982416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982416G>C , CM000674.2:g.115982416G>C	GRCh38
NC_000012.11:g.116420221G>C , CM000674.1:g.116420221G>C	GRCh37
NC_000012.10:g.114904604G>C	NCBI36
NG_023366.1:g.299771C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5143C>G MANE Select	ENSP00000281928.3:p.Pro1715Ala
ENST00000549786.2:c.4571C>G
ENST00000648379.1:n.3511C>G
ENST00000648737.1:n.4907C>G
ENST00000648825.1:n.1883C>G
ENST00000648916.1:n.3154C>G
ENST00000649146.1:n.2386C>G
ENST00000649607.1:c.3327C>G
ENST00000649775.1:c.1632C>G
ENST00000650226.1:c.5143C>G	ENSP00000496981.1:p.Pro1715Ala
ENST00000281928.7:c.5143C>G	ENSP00000281928.3:p.Pro1715Ala
ENST00000549786.1:c.507C>G
ENST00000552340.1:c.175C>G	ENSP00000449876.1:p.Pro59Ala
NM_015335.4:c.5143C>G	NP_056150.1:p.Pro1715Ala
XM_011538080.1:c.5143C>G	XP_011536382.1:p.Pro1715Ala
XM_011538081.1:c.5140C>G	XP_011536383.1:p.Pro1714Ala
XM_011538082.1:c.5113C>G	XP_011536384.1:p.Pro1705Ala
XM_011538080.2:c.5143C>G	XP_011536382.1:p.Pro1715Ala
XM_011538081.2:c.5140C>G	XP_011536383.1:p.Pro1714Ala
XM_011538082.2:c.5113C>G	XP_011536384.1:p.Pro1705Ala
XM_017019090.1:c.5140C>G	XP_016874579.1:p.Pro1714Ala
NM_015335.5:c.5143C>G MANE Select	NP_056150.1:p.Pro1715Ala