Canonical Allele Identifier: CA386888178

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429436C>A (hg19) ; chr12:g.115991631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991631C>A , CM000674.2:g.115991631C>A	GRCh38
NC_000012.11:g.116429436C>A , CM000674.1:g.116429436C>A	GRCh37
NC_000012.10:g.114913819C>A	NCBI36
NG_023366.1:g.290556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3323G>T MANE Select	ENSP00000281928.3:p.Ser1108Ile
ENST00000549786.2:c.2751G>T
ENST00000648379.1:n.1691G>T
ENST00000648737.1:n.3087G>T
ENST00000648825.1:n.63G>T
ENST00000648916.1:n.1334G>T
ENST00000649607.1:c.1507G>T
ENST00000650226.1:c.3323G>T	ENSP00000496981.1:p.Ser1108Ile
ENST00000281928.7:c.3323G>T	ENSP00000281928.3:p.Ser1108Ile
NM_015335.4:c.3323G>T	NP_056150.1:p.Ser1108Ile
XM_011538080.1:c.3323G>T	XP_011536382.1:p.Ser1108Ile
XM_011538081.1:c.3320G>T	XP_011536383.1:p.Ser1107Ile
XM_011538082.1:c.3293G>T	XP_011536384.1:p.Ser1098Ile
XM_011538080.2:c.3323G>T	XP_011536382.1:p.Ser1108Ile
XM_011538081.2:c.3320G>T	XP_011536383.1:p.Ser1107Ile
XM_011538082.2:c.3293G>T	XP_011536384.1:p.Ser1098Ile
XM_017019090.1:c.3320G>T	XP_016874579.1:p.Ser1107Ile
NM_015335.5:c.3323G>T MANE Select	NP_056150.1:p.Ser1108Ile