Canonical Allele Identifier: CA608055704

Gene: MED13L

Linked Data

• dbSNP Id: rs1258592206
• gnomAD v2: 12-116420120-C-A
• gnomAD v4: 12-115982315-C-A
• MyVariant Identifiers: chr12:g.116420120C>A (hg19) ; chr12:g.115982315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982315C>A , CM000674.2:g.115982315C>A	GRCh38
NC_000012.11:g.116420120C>A , CM000674.1:g.116420120C>A	GRCh37
NC_000012.10:g.114904503C>A	NCBI36
NG_023366.1:g.299872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+69G>T MANE Select	ENSP00000281928.3:n.5175+69G>T
ENST00000549786.2:c.4672G>T
ENST00000648379.1:n.3543+69G>T
ENST00000648737.1:n.4939+69G>T
ENST00000648825.1:n.1984G>T
ENST00000648916.1:n.3186+69G>T
ENST00000649146.1:n.2487G>T
ENST00000649607.1:c.3359+69G>T
ENST00000649775.1:c.1664+69G>T
ENST00000650226.1:c.5175+69G>T	ENSP00000496981.1:n.5175+69G>T
ENST00000281928.7:c.5175+69G>T	ENSP00000281928.3:n.5175+69G>T
ENST00000549786.1:c.608G>T
ENST00000552340.1:c.207+69G>T	ENSP00000449876.1:n.207+69G>T
NM_015335.4:c.5175+69G>T	NP_056150.1:n.5175+69G>T
XM_011538080.1:c.5175+69G>T	XP_011536382.1:n.5175+69G>T
XM_011538081.1:c.5172+69G>T	XP_011536383.1:n.5172+69G>T
XM_011538082.1:c.5145+69G>T	XP_011536384.1:n.5145+69G>T
XM_011538080.2:c.5175+69G>T	XP_011536382.1:n.5175+69G>T
XM_011538081.2:c.5172+69G>T	XP_011536383.1:n.5172+69G>T
XM_011538082.2:c.5145+69G>T	XP_011536384.1:n.5145+69G>T
XM_017019090.1:c.5172+69G>T	XP_016874579.1:n.5172+69G>T
NM_015335.5:c.5175+69G>T MANE Select	NP_056150.1:n.5175+69G>T