Canonical Allele Identifier: CA386888376

Gene: MED13L

Linked Data

• dbSNP Id: rs1486834328
• gnomAD v2: 12-116429476-C-A
• gnomAD v4: 12-115991671-C-A
• MyVariant Identifiers: chr12:g.116429476C>A (hg19) ; chr12:g.115991671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991671C>A , CM000674.2:g.115991671C>A	GRCh38
NC_000012.11:g.116429476C>A , CM000674.1:g.116429476C>A	GRCh37
NC_000012.10:g.114913859C>A	NCBI36
NG_023366.1:g.290516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3283G>T MANE Select	ENSP00000281928.3:p.Val1095Leu
ENST00000549786.2:c.2711G>T
ENST00000648379.1:n.1651G>T
ENST00000648737.1:n.3047G>T
ENST00000648825.1:n.23G>T
ENST00000648916.1:n.1294G>T
ENST00000649607.1:c.1467G>T
ENST00000650226.1:c.3283G>T	ENSP00000496981.1:p.Val1095Leu
ENST00000281928.7:c.3283G>T	ENSP00000281928.3:p.Val1095Leu
NM_015335.4:c.3283G>T	NP_056150.1:p.Val1095Leu
XM_011538080.1:c.3283G>T	XP_011536382.1:p.Val1095Leu
XM_011538081.1:c.3280G>T	XP_011536383.1:p.Val1094Leu
XM_011538082.1:c.3253G>T	XP_011536384.1:p.Val1085Leu
XM_011538080.2:c.3283G>T	XP_011536382.1:p.Val1095Leu
XM_011538081.2:c.3280G>T	XP_011536383.1:p.Val1094Leu
XM_011538082.2:c.3253G>T	XP_011536384.1:p.Val1085Leu
XM_017019090.1:c.3280G>T	XP_016874579.1:p.Val1094Leu
NM_015335.5:c.3283G>T MANE Select	NP_056150.1:p.Val1095Leu