Canonical Allele Identifier: CA386881089

Gene: MED13L

Linked Data

• dbSNP Id: rs1239103457
• gnomAD v2: 12-116420236-T-A
• gnomAD v3: 12-115982431-T-A
• gnomAD v4: 12-115982431-T-A
• MyVariant Identifiers: chr12:g.116420236T>A (hg19) ; chr12:g.115982431T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982431T>A , CM000674.2:g.115982431T>A	GRCh38
NC_000012.11:g.116420236T>A , CM000674.1:g.116420236T>A	GRCh37
NC_000012.10:g.114904619T>A	NCBI36
NG_023366.1:g.299756A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5128A>T MANE Select	ENSP00000281928.3:p.Met1710Leu
ENST00000549786.2:c.4556A>T
ENST00000648379.1:n.3496A>T
ENST00000648737.1:n.4892A>T
ENST00000648825.1:n.1868A>T
ENST00000648916.1:n.3139A>T
ENST00000649146.1:n.2371A>T
ENST00000649607.1:c.3312A>T
ENST00000649775.1:c.1617A>T
ENST00000650226.1:c.5128A>T	ENSP00000496981.1:p.Met1710Leu
ENST00000281928.7:c.5128A>T	ENSP00000281928.3:p.Met1710Leu
ENST00000549786.1:c.492A>T
ENST00000552340.1:c.160A>T	ENSP00000449876.1:p.Met54Leu
NM_015335.4:c.5128A>T	NP_056150.1:p.Met1710Leu
XM_011538080.1:c.5128A>T	XP_011536382.1:p.Met1710Leu
XM_011538081.1:c.5125A>T	XP_011536383.1:p.Met1709Leu
XM_011538082.1:c.5098A>T	XP_011536384.1:p.Met1700Leu
XM_011538080.2:c.5128A>T	XP_011536382.1:p.Met1710Leu
XM_011538081.2:c.5125A>T	XP_011536383.1:p.Met1709Leu
XM_011538082.2:c.5098A>T	XP_011536384.1:p.Met1700Leu
XM_017019090.1:c.5125A>T	XP_016874579.1:p.Met1709Leu
NM_015335.5:c.5128A>T MANE Select	NP_056150.1:p.Met1710Leu