Canonical Allele Identifier: CA386888697

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991740-C-G
• MyVariant Identifiers: chr12:g.116429545C>G (hg19) ; chr12:g.115991740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991740C>G , CM000674.2:g.115991740C>G	GRCh38
NC_000012.11:g.116429545C>G , CM000674.1:g.116429545C>G	GRCh37
NC_000012.10:g.114913928C>G	NCBI36
NG_023366.1:g.290447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3214G>C MANE Select	ENSP00000281928.3:p.Val1072Leu
ENST00000548743.2:c.3184G>C	ENSP00000448553.2:p.Val1062Leu
ENST00000549786.2:c.2642G>C
ENST00000648173.1:n.2009G>C
ENST00000648379.1:n.1582G>C
ENST00000648737.1:n.2978G>C
ENST00000648916.1:n.1225G>C
ENST00000649607.1:c.1398G>C
ENST00000650226.1:c.3214G>C	ENSP00000496981.1:p.Val1072Leu
ENST00000281928.7:c.3214G>C	ENSP00000281928.3:p.Val1072Leu
NM_015335.4:c.3214G>C	NP_056150.1:p.Val1072Leu
XM_011538080.1:c.3214G>C	XP_011536382.1:p.Val1072Leu
XM_011538081.1:c.3211G>C	XP_011536383.1:p.Val1071Leu
XM_011538082.1:c.3184G>C	XP_011536384.1:p.Val1062Leu
XM_011538080.2:c.3214G>C	XP_011536382.1:p.Val1072Leu
XM_011538081.2:c.3211G>C	XP_011536383.1:p.Val1071Leu
XM_011538082.2:c.3184G>C	XP_011536384.1:p.Val1062Leu
XM_017019090.1:c.3211G>C	XP_016874579.1:p.Val1071Leu
NM_015335.5:c.3214G>C MANE Select	NP_056150.1:p.Val1072Leu