Canonical Allele Identifier: CA6810396

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966115G>A , CM000674.2:g.115966115G>A	GRCh38
NC_000012.11:g.116403920G>A , CM000674.1:g.116403920G>A	GRCh37
NC_000012.10:g.114888303G>A	NCBI36
NG_023366.1:g.316072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6354C>T MANE Select	ENSP00000281928.3:p.Pro2118=
ENST00000548784.2:n.2568C>T
ENST00000648379.1:n.4722C>T
ENST00000648737.1:n.6118C>T
ENST00000648762.1:n.1044C>T
ENST00000648825.1:n.4539C>T
ENST00000648916.1:n.4365C>T
ENST00000649607.1:c.4538C>T
ENST00000649775.1:c.2685C>T
ENST00000650226.1:c.6390C>T	ENSP00000496981.1:p.Pro2130=
ENST00000281928.7:c.6354C>T	ENSP00000281928.3:p.Pro2118=
NM_015335.4:c.6354C>T	NP_056150.1:p.Pro2118=
XM_011538080.1:c.6390C>T	XP_011536382.1:p.Pro2130=
XM_011538081.1:c.6387C>T	XP_011536383.1:p.Pro2129=
XM_011538082.1:c.6360C>T	XP_011536384.1:p.Pro2120=
XM_011538080.2:c.6390C>T	XP_011536382.1:p.Pro2130=
XM_011538081.2:c.6387C>T	XP_011536383.1:p.Pro2129=
XM_011538082.2:c.6360C>T	XP_011536384.1:p.Pro2120=
XM_017019090.1:c.6351C>T	XP_016874579.1:p.Pro2117=
NM_015335.5:c.6354C>T MANE Select	NP_056150.1:p.Pro2118=