Canonical Allele Identifier: CA6811041

Gene: MED13L

Linked Data

• dbSNP Id: rs767278412
• ExAC: 12:116429758 C / A
• gnomAD v2: 12-116429758-C-A
• gnomAD v4: 12-115991953-C-A
• MyVariant Identifiers: chr12:g.116429758C>A (hg19) ; chr12:g.115991953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991953C>A , CM000674.2:g.115991953C>A	GRCh38
NC_000012.11:g.116429758C>A , CM000674.1:g.116429758C>A	GRCh37
NC_000012.10:g.114914141C>A	NCBI36
NG_023366.1:g.290234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3001G>T MANE Select	ENSP00000281928.3:p.Val1001Leu
ENST00000548743.2:c.2971G>T	ENSP00000448553.2:p.Val991Leu
ENST00000549786.2:c.2429G>T
ENST00000648173.1:n.1796G>T
ENST00000648379.1:n.1369G>T
ENST00000648737.1:n.2765G>T
ENST00000648916.1:n.1012G>T
ENST00000649607.1:c.1185G>T
ENST00000650226.1:c.3001G>T	ENSP00000496981.1:p.Val1001Leu
ENST00000281928.7:c.3001G>T	ENSP00000281928.3:p.Val1001Leu
NM_015335.4:c.3001G>T	NP_056150.1:p.Val1001Leu
XM_011538080.1:c.3001G>T	XP_011536382.1:p.Val1001Leu
XM_011538081.1:c.2998G>T	XP_011536383.1:p.Val1000Leu
XM_011538082.1:c.2971G>T	XP_011536384.1:p.Val991Leu
XM_011538080.2:c.3001G>T	XP_011536382.1:p.Val1001Leu
XM_011538081.2:c.2998G>T	XP_011536383.1:p.Val1000Leu
XM_011538082.2:c.2971G>T	XP_011536384.1:p.Val991Leu
XM_017019090.1:c.2998G>T	XP_016874579.1:p.Val1000Leu
NM_015335.5:c.3001G>T MANE Select	NP_056150.1:p.Val1001Leu