Canonical Allele Identifier: CA366030871

Gene: IYD

Linked Data

• gnomAD v4: 6-150389540-G-T
• MyVariant Identifiers: chr6:g.150710676G>T (hg19) ; chr6:g.150389540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389540G>T , CM000668.2:g.150389540G>T	GRCh38
NC_000006.11:g.150710676G>T , CM000668.1:g.150710676G>T	GRCh37
NC_000006.10:g.150752369G>T	NCBI36
NG_016007.1:g.25649G>T
NG_016007.2:g.25649G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.367G>T MANE Select	ENSP00000343763.4:p.Ala123Ser
ENST00000229447.9:c.367G>T	ENSP00000229447.5:p.Ala123Ser
ENST00000344419.7:c.367G>T	ENSP00000343763.3:p.Ala123Ser
ENST00000367335.7:c.367G>T	ENSP00000356304.3:p.Ala123Ser
ENST00000392255.7:c.367G>T	ENSP00000376084.3:p.Ala123Ser
ENST00000392256.6:c.367G>T	ENSP00000376085.2:p.Ala123Ser
ENST00000422583.2:c.179+65G>T	ENSP00000397342.2:n.179+65G>T
ENST00000425615.3:c.202G>T	ENSP00000390081.3:p.Ala68Ser
ENST00000500320.7:c.367G>T	ENSP00000441276.1:p.Ala123Ser
ENST00000546121.1:n.310G>T
NM_001164694.1:c.367G>T	NP_001158166.1:p.Ala123Ser
NM_001164695.1:c.367G>T	NP_001158167.1:p.Ala123Ser
NM_203395.2:c.367G>T	NP_981932.1:p.Ala123Ser
XM_006715478.2:c.367G>T	XP_006715541.1:p.Ala123Ser
XM_006715479.2:c.202G>T	XP_006715542.1:p.Ala68Ser
XR_245516.3:n.530G>T
NM_001318495.1:c.124+65G>T	NP_001305424.1:n.124+65G>T
NR_134655.1:n.507G>T
XM_006715478.3:c.367G>T	XP_006715541.1:p.Ala123Ser
XM_006715479.3:c.202G>T	XP_006715542.1:p.Ala68Ser
NM_001164694.2:c.367G>T	NP_001158166.1:p.Ala123Ser
NM_001164695.2:c.367G>T	NP_001158167.1:p.Ala123Ser
NM_001318495.2:c.124+65G>T	NP_001305424.1:n.124+65G>T
NM_203395.3:c.367G>T MANE Select	NP_981932.1:p.Ala123Ser
NR_134655.2:n.387G>T