Canonical Allele Identifier: CA386888423

Gene: MED13L

Linked Data

• dbSNP Id: rs1262715834
• gnomAD v2: 12-116429485-G-A
• gnomAD v4: 12-115991680-G-A
• MyVariant Identifiers: chr12:g.116429485G>A (hg19) ; chr12:g.115991680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991680G>A , CM000674.2:g.115991680G>A	GRCh38
NC_000012.11:g.116429485G>A , CM000674.1:g.116429485G>A	GRCh37
NC_000012.10:g.114913868G>A	NCBI36
NG_023366.1:g.290507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3274C>T MANE Select	ENSP00000281928.3:p.Leu1092Phe
ENST00000548743.2:c.3244C>T
ENST00000549786.2:c.2702C>T
ENST00000648379.1:n.1642C>T
ENST00000648737.1:n.3038C>T
ENST00000648825.1:n.14C>T
ENST00000648916.1:n.1285C>T
ENST00000649607.1:c.1458C>T
ENST00000650226.1:c.3274C>T	ENSP00000496981.1:p.Leu1092Phe
ENST00000281928.7:c.3274C>T	ENSP00000281928.3:p.Leu1092Phe
NM_015335.4:c.3274C>T	NP_056150.1:p.Leu1092Phe
XM_011538080.1:c.3274C>T	XP_011536382.1:p.Leu1092Phe
XM_011538081.1:c.3271C>T	XP_011536383.1:p.Leu1091Phe
XM_011538082.1:c.3244C>T	XP_011536384.1:p.Leu1082Phe
XM_011538080.2:c.3274C>T	XP_011536382.1:p.Leu1092Phe
XM_011538081.2:c.3271C>T	XP_011536383.1:p.Leu1091Phe
XM_011538082.2:c.3244C>T	XP_011536384.1:p.Leu1082Phe
XM_017019090.1:c.3271C>T	XP_016874579.1:p.Leu1091Phe
NM_015335.5:c.3274C>T MANE Select	NP_056150.1:p.Leu1092Phe