Canonical Allele Identifier: CA244141310

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2172758
• ClinVar RCV Id: RCV002574432
• dbSNP Id: rs907555134
• gnomAD v2: 12-116420313-G-A
• gnomAD v4: 12-115982508-G-A
• MyVariant Identifiers: chr12:g.116420313G>A (hg19) ; chr12:g.115982508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982508G>A , CM000674.2:g.115982508G>A	GRCh38
NC_000012.11:g.116420313G>A , CM000674.1:g.116420313G>A	GRCh37
NC_000012.10:g.114904696G>A	NCBI36
NG_023366.1:g.299679C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5051C>T MANE Select	ENSP00000281928.3:p.Pro1684Leu
ENST00000549786.2:c.4479C>T
ENST00000648379.1:n.3419C>T
ENST00000648737.1:n.4815C>T
ENST00000648825.1:n.1791C>T
ENST00000648916.1:n.3062C>T
ENST00000649146.1:n.2294C>T
ENST00000649607.1:c.3235C>T
ENST00000649775.1:c.1540C>T
ENST00000650226.1:c.5051C>T	ENSP00000496981.1:p.Pro1684Leu
ENST00000281928.7:c.5051C>T	ENSP00000281928.3:p.Pro1684Leu
ENST00000549786.1:c.415C>T
ENST00000552340.1:c.83C>T	ENSP00000449876.1:p.Pro28Leu
NM_015335.4:c.5051C>T	NP_056150.1:p.Pro1684Leu
XM_011538080.1:c.5051C>T	XP_011536382.1:p.Pro1684Leu
XM_011538081.1:c.5048C>T	XP_011536383.1:p.Pro1683Leu
XM_011538082.1:c.5021C>T	XP_011536384.1:p.Pro1674Leu
XM_011538080.2:c.5051C>T	XP_011536382.1:p.Pro1684Leu
XM_011538081.2:c.5048C>T	XP_011536383.1:p.Pro1683Leu
XM_011538082.2:c.5021C>T	XP_011536384.1:p.Pro1674Leu
XM_017019090.1:c.5048C>T	XP_016874579.1:p.Pro1683Leu
NM_015335.5:c.5051C>T MANE Select	NP_056150.1:p.Pro1684Leu