Canonical Allele Identifier: CA608055697

Gene: MED13L

Linked Data

• dbSNP Id: rs1337112495
• gnomAD v2: 12-116419944-G-A
• gnomAD v4: 12-115982139-G-A
• MyVariant Identifiers: chr12:g.116419944G>A (hg19) ; chr12:g.115982139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982139G>A , CM000674.2:g.115982139G>A	GRCh38
NC_000012.11:g.116419944G>A , CM000674.1:g.116419944G>A	GRCh37
NC_000012.10:g.114904327G>A	NCBI36
NG_023366.1:g.300048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+245C>T MANE Select	ENSP00000281928.3:n.5175+245C>T
ENST00000549786.2:c.4848C>T
ENST00000648379.1:n.3543+245C>T
ENST00000648737.1:n.4939+245C>T
ENST00000648825.1:n.2160C>T
ENST00000648916.1:n.3186+245C>T
ENST00000649146.1:n.2663C>T
ENST00000649607.1:c.3359+245C>T
ENST00000649775.1:c.1664+245C>T
ENST00000650226.1:c.5175+245C>T	ENSP00000496981.1:n.5175+245C>T
ENST00000281928.7:c.5175+245C>T	ENSP00000281928.3:n.5175+245C>T
ENST00000549786.1:c.784C>T
ENST00000552340.1:c.207+245C>T	ENSP00000449876.1:n.207+245C>T
NM_015335.4:c.5175+245C>T	NP_056150.1:n.5175+245C>T
XM_011538080.1:c.5175+245C>T	XP_011536382.1:n.5175+245C>T
XM_011538081.1:c.5172+245C>T	XP_011536383.1:n.5172+245C>T
XM_011538082.1:c.5145+245C>T	XP_011536384.1:n.5145+245C>T
XM_011538080.2:c.5175+245C>T	XP_011536382.1:n.5175+245C>T
XM_011538081.2:c.5172+245C>T	XP_011536383.1:n.5172+245C>T
XM_011538082.2:c.5145+245C>T	XP_011536384.1:n.5145+245C>T
XM_017019090.1:c.5172+245C>T	XP_016874579.1:n.5172+245C>T
NM_015335.5:c.5175+245C>T MANE Select	NP_056150.1:n.5175+245C>T