Canonical Allele Identifier: CA386876182

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408449T>A (hg19) ; chr12:g.115970644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970644T>A , CM000674.2:g.115970644T>A	GRCh38
NC_000012.11:g.116408449T>A , CM000674.1:g.116408449T>A	GRCh37
NC_000012.10:g.114892832T>A	NCBI36
NG_023366.1:g.311543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6017A>T MANE Select	ENSP00000281928.3:p.Gln2006Leu
ENST00000548784.2:n.2231A>T
ENST00000648379.1:n.4385A>T
ENST00000648737.1:n.5781A>T
ENST00000648825.1:n.4202A>T
ENST00000648916.1:n.4028A>T
ENST00000649607.1:c.4201A>T
ENST00000649775.1:c.2506A>T
ENST00000650226.1:c.6053A>T	ENSP00000496981.1:p.Gln2018Leu
ENST00000281928.7:c.6017A>T	ENSP00000281928.3:p.Gln2006Leu
NM_015335.4:c.6017A>T	NP_056150.1:p.Gln2006Leu
XM_011538080.1:c.6053A>T	XP_011536382.1:p.Gln2018Leu
XM_011538081.1:c.6050A>T	XP_011536383.1:p.Gln2017Leu
XM_011538082.1:c.6023A>T	XP_011536384.1:p.Gln2008Leu
XM_011538080.2:c.6053A>T	XP_011536382.1:p.Gln2018Leu
XM_011538081.2:c.6050A>T	XP_011536383.1:p.Gln2017Leu
XM_011538082.2:c.6023A>T	XP_011536384.1:p.Gln2008Leu
XM_017019090.1:c.6014A>T	XP_016874579.1:p.Gln2005Leu
NM_015335.5:c.6017A>T MANE Select	NP_056150.1:p.Gln2006Leu