Canonical Allele Identifier: CA386898288

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2662607
• ClinVar RCV Id: RCV003441272
• MyVariant Identifiers: chr12:g.116450656G>A (hg19) ; chr12:g.116012851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012851G>A , CM000674.2:g.116012851G>A	GRCh38
NC_000012.11:g.116450656G>A , CM000674.1:g.116450656G>A	GRCh37
NC_000012.10:g.114935039G>A	NCBI36
NG_023366.1:g.269336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1226C>T MANE Select	ENSP00000281928.3:p.Pro409Leu
ENST00000548743.2:c.1196C>T	ENSP00000448553.2:p.Pro399Leu
ENST00000549786.2:c.654C>T
ENST00000647567.1:c.1133C>T	ENSP00000497136.1:p.Pro378Leu
ENST00000648737.1:n.990C>T
ENST00000650226.1:c.1226C>T	ENSP00000496981.1:p.Pro409Leu
ENST00000281928.7:c.1226C>T	ENSP00000281928.3:p.Pro409Leu
NM_015335.4:c.1226C>T	NP_056150.1:p.Pro409Leu
XM_011538080.1:c.1226C>T	XP_011536382.1:p.Pro409Leu
XM_011538081.1:c.1226C>T	XP_011536383.1:p.Pro409Leu
XM_011538082.1:c.1196C>T	XP_011536384.1:p.Pro399Leu
XM_011538080.2:c.1226C>T	XP_011536382.1:p.Pro409Leu
XM_011538081.2:c.1226C>T	XP_011536383.1:p.Pro409Leu
XM_011538082.2:c.1196C>T	XP_011536384.1:p.Pro399Leu
XM_017019090.1:c.1226C>T	XP_016874579.1:p.Pro409Leu
NM_015335.5:c.1226C>T MANE Select	NP_056150.1:p.Pro409Leu