Canonical Allele Identifier: CA481949579

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434965C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997160C>T , CM000674.2:g.115997160C>T	GRCh38
NC_000012.11:g.116434965C>T , CM000674.1:g.116434965C>T	GRCh37
NC_000012.10:g.114919348C>T	NCBI36
NG_023366.1:g.285027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2640G>A MANE Select	ENSP00000281928.3:p.Val880=
ENST00000548743.2:c.2610G>A	ENSP00000448553.2:p.Val870=
ENST00000549786.2:c.2068G>A
ENST00000647927.1:n.3013G>A
ENST00000648173.1:n.1435G>A
ENST00000648379.1:n.1008G>A
ENST00000648737.1:n.2404G>A
ENST00000648916.1:n.651G>A
ENST00000649607.1:c.824G>A
ENST00000650226.1:c.2640G>A	ENSP00000496981.1:p.Val880=
ENST00000281928.7:c.2640G>A	ENSP00000281928.3:p.Val880=
NM_015335.4:c.2640G>A	NP_056150.1:p.Val880=
XM_011538080.1:c.2640G>A	XP_011536382.1:p.Val880=
XM_011538081.1:c.2637G>A	XP_011536383.1:p.Val879=
XM_011538082.1:c.2610G>A	XP_011536384.1:p.Val870=
XM_011538080.2:c.2640G>A	XP_011536382.1:p.Val880=
XM_011538081.2:c.2637G>A	XP_011536383.1:p.Val879=
XM_011538082.2:c.2610G>A	XP_011536384.1:p.Val870=
XM_017019090.1:c.2637G>A	XP_016874579.1:p.Val879=
NM_015335.5:c.2640G>A MANE Select	NP_056150.1:p.Val880=