Canonical Allele Identifier: CA386890580

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997089-C-T
• MyVariant Identifiers: chr12:g.116434894C>T (hg19) ; chr12:g.115997089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997089C>T , CM000674.2:g.115997089C>T	GRCh38
NC_000012.11:g.116434894C>T , CM000674.1:g.116434894C>T	GRCh37
NC_000012.10:g.114919277C>T	NCBI36
NG_023366.1:g.285098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2711G>A MANE Select	ENSP00000281928.3:p.Ser904Asn
ENST00000548743.2:c.2681G>A	ENSP00000448553.2:p.Ser894Asn
ENST00000549786.2:c.2139G>A
ENST00000647927.1:n.3084G>A
ENST00000648173.1:n.1506G>A
ENST00000648379.1:n.1079G>A
ENST00000648737.1:n.2475G>A
ENST00000648916.1:n.722G>A
ENST00000649607.1:c.895G>A
ENST00000650226.1:c.2711G>A	ENSP00000496981.1:p.Ser904Asn
ENST00000281928.7:c.2711G>A	ENSP00000281928.3:p.Ser904Asn
NM_015335.4:c.2711G>A	NP_056150.1:p.Ser904Asn
XM_011538080.1:c.2711G>A	XP_011536382.1:p.Ser904Asn
XM_011538081.1:c.2708G>A	XP_011536383.1:p.Ser903Asn
XM_011538082.1:c.2681G>A	XP_011536384.1:p.Ser894Asn
XM_011538080.2:c.2711G>A	XP_011536382.1:p.Ser904Asn
XM_011538081.2:c.2708G>A	XP_011536383.1:p.Ser903Asn
XM_011538082.2:c.2681G>A	XP_011536384.1:p.Ser894Asn
XM_017019090.1:c.2708G>A	XP_016874579.1:p.Ser903Asn
NM_015335.5:c.2711G>A MANE Select	NP_056150.1:p.Ser904Asn