Canonical Allele Identifier: CA482136949

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116421062T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983257T>A , CM000674.2:g.115983257T>A	GRCh38
NC_000012.11:g.116421062T>A , CM000674.1:g.116421062T>A	GRCh37
NC_000012.10:g.114905445T>A	NCBI36
NG_023366.1:g.298930A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4815A>T MANE Select	ENSP00000281928.3:p.Ser1605=
ENST00000549786.2:c.4243A>T
ENST00000648379.1:n.3183A>T
ENST00000648737.1:n.4579A>T
ENST00000648825.1:n.1555A>T
ENST00000648916.1:n.2826A>T
ENST00000649146.1:n.1545A>T
ENST00000649607.1:c.2999A>T
ENST00000649775.1:c.1312A>T
ENST00000650226.1:c.4815A>T	ENSP00000496981.1:p.Ser1605=
ENST00000281928.7:c.4815A>T	ENSP00000281928.3:p.Ser1605=
ENST00000549786.1:c.179A>T
NM_015335.4:c.4815A>T	NP_056150.1:p.Ser1605=
XM_011538080.1:c.4815A>T	XP_011536382.1:p.Ser1605=
XM_011538081.1:c.4812A>T	XP_011536383.1:p.Ser1604=
XM_011538082.1:c.4785A>T	XP_011536384.1:p.Ser1595=
XM_011538080.2:c.4815A>T	XP_011536382.1:p.Ser1605=
XM_011538081.2:c.4812A>T	XP_011536383.1:p.Ser1604=
XM_011538082.2:c.4785A>T	XP_011536384.1:p.Ser1595=
XM_017019090.1:c.4812A>T	XP_016874579.1:p.Ser1604=
NM_015335.5:c.4815A>T MANE Select	NP_056150.1:p.Ser1605=