Canonical Allele Identifier: CA414843762

Gene: KDM5D

Linked Data

• dbSNP Id: rs1471932443
• gnomAD v2: Y-21869494-C-A
• gnomAD v3: Y-19707608-C-A
• gnomAD v4: Y-19707608-C-A
• MyVariant Identifiers: chrY:g.21869494C>A (hg19) ; chrY:g.19707608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707608C>A , CM000686.2:g.19707608C>A	GRCh38
NC_000024.9:g.21869494C>A , CM000686.1:g.21869494C>A	GRCh37
NC_000024.8:g.20328882C>A	NCBI36
NG_032920.1:g.42332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3538G>T MANE Select	ENSP00000322408.4:p.Val1180Leu
ENST00000317961.8:c.3538G>T	ENSP00000322408.4:p.Val1180Leu
ENST00000382806.6:c.3367G>T	ENSP00000372256.2:p.Val1123Leu
ENST00000415360.1:c.454G>T	ENSP00000389433.1:p.Val152Leu
ENST00000440077.5:c.3415G>T	ENSP00000398543.1:p.Val1139Leu
ENST00000469599.6:n.2136G>T
ENST00000492117.1:n.3430G>T
ENST00000541639.5:c.3631G>T	ENSP00000444293.1:p.Val1211Leu
NM_001146705.1:c.3631G>T	NP_001140177.1:p.Val1211Leu
NM_001146706.1:c.3367G>T	NP_001140178.1:p.Val1123Leu
NM_004653.4:c.3538G>T	NP_004644.2:p.Val1180Leu
XM_005262560.1:c.3403G>T	XP_005262617.1:p.Val1135Leu
XM_005262561.1:c.3307G>T	XP_005262618.1:p.Val1103Leu
XM_011531468.1:c.3460G>T	XP_011529770.1:p.Val1154Leu
XR_244571.2:n.3826G>T
XR_430568.2:n.4160G>T
XM_005262560.3:c.3403G>T	XP_005262617.1:p.Val1135Leu
XM_005262561.3:c.3307G>T	XP_005262618.1:p.Val1103Leu
XM_011531468.3:c.3460G>T	XP_011529770.1:p.Val1154Leu
XM_024452495.1:c.1528G>T	XP_024308263.1:p.Val510Leu
XM_024452496.1:c.1294G>T	XP_024308264.1:p.Val432Leu
XR_001756009.2:n.4276G>T
XR_001756010.2:n.4276G>T
XR_001756011.2:n.4141G>T
XR_001756012.2:n.4289G>T
XR_001756013.2:n.3607G>T
XR_002958832.1:n.3708G>T
XR_002958834.1:n.3932G>T
XR_002958835.1:n.3815G>T
XR_002958836.1:n.4498G>T
XR_002958837.1:n.4305G>T
XR_244571.4:n.3825G>T
XR_430568.4:n.4159G>T
NM_001146706.2:c.3367G>T	NP_001140178.1:p.Val1123Leu
NM_004653.5:c.3538G>T MANE Select	NP_004644.2:p.Val1180Leu
NM_001146705.2:c.3631G>T	NP_001140177.1:p.Val1211Leu