Canonical Allele Identifier: CA386888346

Gene: MED13L

Linked Data

• dbSNP Id: rs1277143195
• gnomAD v2: 12-116429470-G-A
• gnomAD v4: 12-115991665-G-A
• MyVariant Identifiers: chr12:g.116429470G>A (hg19) ; chr12:g.115991665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991665G>A , CM000674.2:g.115991665G>A	GRCh38
NC_000012.11:g.116429470G>A , CM000674.1:g.116429470G>A	GRCh37
NC_000012.10:g.114913853G>A	NCBI36
NG_023366.1:g.290522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3289C>T MANE Select	ENSP00000281928.3:p.Pro1097Ser
ENST00000549786.2:c.2717C>T
ENST00000648379.1:n.1657C>T
ENST00000648737.1:n.3053C>T
ENST00000648825.1:n.29C>T
ENST00000648916.1:n.1300C>T
ENST00000649607.1:c.1473C>T
ENST00000650226.1:c.3289C>T	ENSP00000496981.1:p.Pro1097Ser
ENST00000281928.7:c.3289C>T	ENSP00000281928.3:p.Pro1097Ser
NM_015335.4:c.3289C>T	NP_056150.1:p.Pro1097Ser
XM_011538080.1:c.3289C>T	XP_011536382.1:p.Pro1097Ser
XM_011538081.1:c.3286C>T	XP_011536383.1:p.Pro1096Ser
XM_011538082.1:c.3259C>T	XP_011536384.1:p.Pro1087Ser
XM_011538080.2:c.3289C>T	XP_011536382.1:p.Pro1097Ser
XM_011538081.2:c.3286C>T	XP_011536383.1:p.Pro1096Ser
XM_011538082.2:c.3259C>T	XP_011536384.1:p.Pro1087Ser
XM_017019090.1:c.3286C>T	XP_016874579.1:p.Pro1096Ser
NM_015335.5:c.3289C>T MANE Select	NP_056150.1:p.Pro1097Ser