Canonical Allele Identifier: CA386876137

Gene: MED13L

Linked Data

• dbSNP Id: rs1387712841
• gnomAD v2: 12-116408429-G-T
• gnomAD v3: 12-115970624-G-T
• gnomAD v4: 12-115970624-G-T
• MyVariant Identifiers: chr12:g.116408429G>T (hg19) ; chr12:g.115970624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970624G>T , CM000674.2:g.115970624G>T	GRCh38
NC_000012.11:g.116408429G>T , CM000674.1:g.116408429G>T	GRCh37
NC_000012.10:g.114892812G>T	NCBI36
NG_023366.1:g.311563C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6037C>A MANE Select	ENSP00000281928.3:p.Pro2013Thr
ENST00000548784.2:n.2251C>A
ENST00000648379.1:n.4405C>A
ENST00000648737.1:n.5801C>A
ENST00000648825.1:n.4222C>A
ENST00000648916.1:n.4048C>A
ENST00000649607.1:c.4221C>A
ENST00000649775.1:c.2526C>A
ENST00000650226.1:c.6073C>A	ENSP00000496981.1:p.Pro2025Thr
ENST00000281928.7:c.6037C>A	ENSP00000281928.3:p.Pro2013Thr
NM_015335.4:c.6037C>A	NP_056150.1:p.Pro2013Thr
XM_011538080.1:c.6073C>A	XP_011536382.1:p.Pro2025Thr
XM_011538081.1:c.6070C>A	XP_011536383.1:p.Pro2024Thr
XM_011538082.1:c.6043C>A	XP_011536384.1:p.Pro2015Thr
XM_011538080.2:c.6073C>A	XP_011536382.1:p.Pro2025Thr
XM_011538081.2:c.6070C>A	XP_011536383.1:p.Pro2024Thr
XM_011538082.2:c.6043C>A	XP_011536384.1:p.Pro2015Thr
XM_017019090.1:c.6034C>A	XP_016874579.1:p.Pro2012Thr
NM_015335.5:c.6037C>A MANE Select	NP_056150.1:p.Pro2013Thr