Canonical Allele Identifier: CA386876116

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408420C>G (hg19) ; chr12:g.115970615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970615C>G , CM000674.2:g.115970615C>G	GRCh38
NC_000012.11:g.116408420C>G , CM000674.1:g.116408420C>G	GRCh37
NC_000012.10:g.114892803C>G	NCBI36
NG_023366.1:g.311572G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6046G>C MANE Select	ENSP00000281928.3:p.Asp2016His
ENST00000548784.2:n.2260G>C
ENST00000648379.1:n.4414G>C
ENST00000648737.1:n.5810G>C
ENST00000648825.1:n.4231G>C
ENST00000648916.1:n.4057G>C
ENST00000649607.1:c.4230G>C
ENST00000649775.1:c.2535G>C
ENST00000650226.1:c.6082G>C	ENSP00000496981.1:p.Asp2028His
ENST00000281928.7:c.6046G>C	ENSP00000281928.3:p.Asp2016His
NM_015335.4:c.6046G>C	NP_056150.1:p.Asp2016His
XM_011538080.1:c.6082G>C	XP_011536382.1:p.Asp2028His
XM_011538081.1:c.6079G>C	XP_011536383.1:p.Asp2027His
XM_011538082.1:c.6052G>C	XP_011536384.1:p.Asp2018His
XM_011538080.2:c.6082G>C	XP_011536382.1:p.Asp2028His
XM_011538081.2:c.6079G>C	XP_011536383.1:p.Asp2027His
XM_011538082.2:c.6052G>C	XP_011536384.1:p.Asp2018His
XM_017019090.1:c.6043G>C	XP_016874579.1:p.Asp2015His
NM_015335.5:c.6046G>C MANE Select	NP_056150.1:p.Asp2016His