Canonical Allele Identifier: CA244141029

Gene: MED13L

Linked Data

• dbSNP Id: rs558501342
• gnomAD v2: 12-116419989-G-T
• gnomAD v3: 12-115982184-G-T
• gnomAD v4: 12-115982184-G-T
• MyVariant Identifiers: chr12:g.116419989G>T (hg19) ; chr12:g.115982184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982184G>T , CM000674.2:g.115982184G>T	GRCh38
NC_000012.11:g.116419989G>T , CM000674.1:g.116419989G>T	GRCh37
NC_000012.10:g.114904372G>T	NCBI36
NG_023366.1:g.300003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+200C>A MANE Select	ENSP00000281928.3:n.5175+200C>A
ENST00000549786.2:c.4803C>A
ENST00000648379.1:n.3543+200C>A
ENST00000648737.1:n.4939+200C>A
ENST00000648825.1:n.2115C>A
ENST00000648916.1:n.3186+200C>A
ENST00000649146.1:n.2618C>A
ENST00000649607.1:c.3359+200C>A
ENST00000649775.1:c.1664+200C>A
ENST00000650226.1:c.5175+200C>A	ENSP00000496981.1:n.5175+200C>A
ENST00000281928.7:c.5175+200C>A	ENSP00000281928.3:n.5175+200C>A
ENST00000549786.1:c.739C>A
ENST00000552340.1:c.207+200C>A	ENSP00000449876.1:n.207+200C>A
NM_015335.4:c.5175+200C>A	NP_056150.1:n.5175+200C>A
XM_011538080.1:c.5175+200C>A	XP_011536382.1:n.5175+200C>A
XM_011538081.1:c.5172+200C>A	XP_011536383.1:n.5172+200C>A
XM_011538082.1:c.5145+200C>A	XP_011536384.1:n.5145+200C>A
XM_011538080.2:c.5175+200C>A	XP_011536382.1:n.5175+200C>A
XM_011538081.2:c.5172+200C>A	XP_011536383.1:n.5172+200C>A
XM_011538082.2:c.5145+200C>A	XP_011536384.1:n.5145+200C>A
XM_017019090.1:c.5172+200C>A	XP_016874579.1:n.5172+200C>A
NM_015335.5:c.5175+200C>A MANE Select	NP_056150.1:n.5175+200C>A