Canonical Allele Identifier: CA482137211

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429453T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991648T>A , CM000674.2:g.115991648T>A	GRCh38
NC_000012.11:g.116429453T>A , CM000674.1:g.116429453T>A	GRCh37
NC_000012.10:g.114913836T>A	NCBI36
NG_023366.1:g.290539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3306A>T MANE Select	ENSP00000281928.3:p.Pro1102=
ENST00000549786.2:c.2734A>T
ENST00000648379.1:n.1674A>T
ENST00000648737.1:n.3070A>T
ENST00000648825.1:n.46A>T
ENST00000648916.1:n.1317A>T
ENST00000649607.1:c.1490A>T
ENST00000650226.1:c.3306A>T	ENSP00000496981.1:p.Pro1102=
ENST00000281928.7:c.3306A>T	ENSP00000281928.3:p.Pro1102=
NM_015335.4:c.3306A>T	NP_056150.1:p.Pro1102=
XM_011538080.1:c.3306A>T	XP_011536382.1:p.Pro1102=
XM_011538081.1:c.3303A>T	XP_011536383.1:p.Pro1101=
XM_011538082.1:c.3276A>T	XP_011536384.1:p.Pro1092=
XM_011538080.2:c.3306A>T	XP_011536382.1:p.Pro1102=
XM_011538081.2:c.3303A>T	XP_011536383.1:p.Pro1101=
XM_011538082.2:c.3276A>T	XP_011536384.1:p.Pro1092=
XM_017019090.1:c.3303A>T	XP_016874579.1:p.Pro1101=
NM_015335.5:c.3306A>T MANE Select	NP_056150.1:p.Pro1102=