Canonical Allele Identifier: CA2580085869

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983553A>C , CM000674.2:g.115983553A>C	GRCh38
NC_000012.11:g.116421358A>C , CM000674.1:g.116421358A>C	GRCh37
NC_000012.10:g.114905741A>C	NCBI36
NG_023366.1:g.298634T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.4532-13T>G MANE Select	NP_056150.1:n.4532-13T>G
ENST00000281928.9:c.4532-13T>G MANE Select	ENSP00000281928.3:n.4532-13T>G
NM_015335.4:c.4532-13T>G	NP_056150.1:n.4532-13T>G
ENST00000281928.7:c.4532-13T>G	ENSP00000281928.3:n.4532-13T>G
ENST00000549786.2:c.3960-13T>G
ENST00000648379.1:n.2900-13T>G
ENST00000648737.1:n.4296-13T>G
ENST00000648825.1:n.1272-13T>G
ENST00000648916.1:n.2543-13T>G
ENST00000649146.1:n.1262-13T>G
ENST00000649607.1:c.2716-13T>G
ENST00000649775.1:c.1029-13T>G
ENST00000650091.1:n.2508-13T>G
ENST00000650226.1:c.4532-13T>G	ENSP00000496981.1:n.4532-13T>G
XM_011538080.1:c.4532-13T>G	XP_011536382.1:n.4532-13T>G
XM_011538080.2:c.4532-13T>G	XP_011536382.1:n.4532-13T>G
XM_011538081.1:c.4529-13T>G	XP_011536383.1:n.4529-13T>G
XM_011538081.2:c.4529-13T>G	XP_011536383.1:n.4529-13T>G
XM_011538082.1:c.4502-13T>G	XP_011536384.1:n.4502-13T>G
XM_011538082.2:c.4502-13T>G	XP_011536384.1:n.4502-13T>G
XM_017019090.1:c.4529-13T>G	XP_016874579.1:n.4529-13T>G