Canonical Allele Identifier: CA2663271197

Gene: SPEG ASIC4-AS1

Linked Data

• gnomAD v4: 2-219489263-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489263G>C , CM000664.2:g.219489263G>C	GRCh38
NC_000002.11:g.220353985G>C , CM000664.1:g.220353985G>C	GRCh37
NC_000002.10:g.220062229G>C	NCBI36
NG_051022.1:g.60049G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8317+42G>C (SPEG) MANE Select	ENSP00000311684.7:n.8317+42G>C
ENST00000312358.11:c.8317+42G>C (SPEG)	ENSP00000311684.7:n.8317+42G>C
ENST00000485813.5:n.7560+42G>C (SPEG)
NM_005876.4:c.8317+42G>C (SPEG)	NP_005867.3:n.8317+42G>C
XM_005246237.2:c.8035+42G>C (SPEG)	XP_005246294.1:n.8035+42G>C
XM_005246239.2:c.5941+42G>C (SPEG)	XP_005246296.1:n.5941+42G>C
XM_005246240.2:c.5770+42G>C (SPEG)	XP_005246297.1:n.5770+42G>C
XM_005246241.1:c.5770+42G>C (SPEG)	XP_005246298.1:n.5770+42G>C
XM_005246242.3:c.5956+42G>C (SPEG)	XP_005246299.1:n.5956+42G>C
XM_006712189.2:c.8005+42G>C (SPEG)	XP_006712252.1:n.8005+42G>C
XM_006712193.2:c.5770+42G>C (SPEG)	XP_006712256.1:n.5770+42G>C
XM_011510479.1:c.8347+42G>C (SPEG)	XP_011508781.1:n.8347+42G>C
XM_011510480.1:c.8179+42G>C (SPEG)	XP_011508782.1:n.8179+42G>C
XM_011510481.1:c.8170+42G>C (SPEG)	XP_011508783.1:n.8170+42G>C
XM_011510482.1:c.8164+42G>C (SPEG)	XP_011508784.1:n.8164+42G>C
XM_011510483.1:c.8086+42G>C (SPEG)	XP_011508785.1:n.8086+42G>C
XM_011510484.1:c.8002+42G>C (SPEG)	XP_011508786.1:n.8002+42G>C
XR_923921.1:n.353-6854C>G (ASIC4-AS1)
XM_005246242.4:c.5956+42G>C (SPEG)	XP_005246299.1:n.5956+42G>C
XM_006712189.3:c.8005+42G>C (SPEG)	XP_006712252.1:n.8005+42G>C
XM_006712193.3:c.5770+42G>C (SPEG)	XP_006712256.1:n.5770+42G>C
XM_011510479.2:c.8347+42G>C (SPEG)	XP_011508781.1:n.8347+42G>C
XM_011510483.2:c.8065+42G>C (SPEG)	XP_011508785.2:n.8065+42G>C
XM_017003157.1:c.8065+42G>C (SPEG)	XP_016858646.1:n.8065+42G>C
XM_017003158.2:c.5770+42G>C (SPEG)	XP_016858647.1:n.5770+42G>C
XM_017003160.1:c.3325+42G>C (SPEG)	XP_016858649.1:n.3325+42G>C
XR_923921.2:n.392-6854C>G (ASIC4-AS1)
NM_005876.5:c.8317+42G>C (SPEG) MANE Select	NP_005867.3:n.8317+42G>C