Canonical Allele Identifier: CA386890522

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434880G>A (hg19) ; chr12:g.115997075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997075G>A , CM000674.2:g.115997075G>A	GRCh38
NC_000012.11:g.116434880G>A , CM000674.1:g.116434880G>A	GRCh37
NC_000012.10:g.114919263G>A	NCBI36
NG_023366.1:g.285112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2725C>T MANE Select	ENSP00000281928.3:p.Gln909Ter
ENST00000548743.2:c.2695C>T	ENSP00000448553.2:p.Gln899Ter
ENST00000549786.2:c.2153C>T
ENST00000647927.1:n.3098C>T
ENST00000648173.1:n.1520C>T
ENST00000648379.1:n.1093C>T
ENST00000648737.1:n.2489C>T
ENST00000648916.1:n.736C>T
ENST00000649607.1:c.909C>T
ENST00000650226.1:c.2725C>T	ENSP00000496981.1:p.Gln909Ter
ENST00000281928.7:c.2725C>T	ENSP00000281928.3:p.Gln909Ter
NM_015335.4:c.2725C>T	NP_056150.1:p.Gln909Ter
XM_011538080.1:c.2725C>T	XP_011536382.1:p.Gln909Ter
XM_011538081.1:c.2722C>T	XP_011536383.1:p.Gln908Ter
XM_011538082.1:c.2695C>T	XP_011536384.1:p.Gln899Ter
XM_011538080.2:c.2725C>T	XP_011536382.1:p.Gln909Ter
XM_011538081.2:c.2722C>T	XP_011536383.1:p.Gln908Ter
XM_011538082.2:c.2695C>T	XP_011536384.1:p.Gln899Ter
XM_017019090.1:c.2722C>T	XP_016874579.1:p.Gln908Ter
NM_015335.5:c.2725C>T MANE Select	NP_056150.1:p.Gln909Ter