Canonical Allele Identifier: CA244167804

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1310030
• ClinVar RCV Id: RCV001757098
• dbSNP Id: rs935188053
• gnomAD v2: 12-116450621-C-T
• gnomAD v4: 12-116012816-C-T
• MyVariant Identifiers: chr12:g.116450621C>T (hg19) ; chr12:g.116012816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012816C>T , CM000674.2:g.116012816C>T	GRCh38
NC_000012.11:g.116450621C>T , CM000674.1:g.116450621C>T	GRCh37
NC_000012.10:g.114935004C>T	NCBI36
NG_023366.1:g.269371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1261G>A MANE Select	ENSP00000281928.3:p.Val421Ile
ENST00000548743.2:c.1231G>A	ENSP00000448553.2:p.Val411Ile
ENST00000549786.2:c.689G>A
ENST00000647567.1:c.1168G>A	ENSP00000497136.1:p.Val390Ile
ENST00000648737.1:n.1025G>A
ENST00000650226.1:c.1261G>A	ENSP00000496981.1:p.Val421Ile
ENST00000281928.7:c.1261G>A	ENSP00000281928.3:p.Val421Ile
NM_015335.4:c.1261G>A	NP_056150.1:p.Val421Ile
XM_011538080.1:c.1261G>A	XP_011536382.1:p.Val421Ile
XM_011538081.1:c.1261G>A	XP_011536383.1:p.Val421Ile
XM_011538082.1:c.1231G>A	XP_011536384.1:p.Val411Ile
XM_011538080.2:c.1261G>A	XP_011536382.1:p.Val421Ile
XM_011538081.2:c.1261G>A	XP_011536383.1:p.Val421Ile
XM_011538082.2:c.1231G>A	XP_011536384.1:p.Val411Ile
XM_017019090.1:c.1261G>A	XP_016874579.1:p.Val421Ile
NM_015335.5:c.1261G>A MANE Select	NP_056150.1:p.Val421Ile