Canonical Allele Identifier: CA10574742

Gene: KDM5D

Linked Data

• dbSNP Id: rs565630460
• ExAC: Y:21869383 A / G
• gnomAD v2: Y-21869383-A-G
• gnomAD v3: Y-19707497-A-G
• gnomAD v4: Y-19707497-A-G
• MyVariant Identifiers: chrY:g.21869383A>G (hg19) ; chrY:g.19707497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707497A>G , CM000686.2:g.19707497A>G	GRCh38
NC_000024.9:g.21869383A>G , CM000686.1:g.21869383A>G	GRCh37
NC_000024.8:g.20328771A>G	NCBI36
NG_032920.1:g.42443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3649T>C MANE Select	ENSP00000322408.4:p.Ser1217Pro
ENST00000317961.8:c.3649T>C	ENSP00000322408.4:p.Ser1217Pro
ENST00000382806.6:c.3478T>C	ENSP00000372256.2:p.Ser1160Pro
ENST00000415360.1:c.565T>C	ENSP00000389433.1:p.Ser189Pro
ENST00000440077.5:c.3526T>C	ENSP00000398543.1:p.Ser1176Pro
ENST00000469599.6:n.2247T>C
ENST00000492117.1:n.3541T>C
ENST00000541639.5:c.3742T>C	ENSP00000444293.1:p.Ser1248Pro
NM_001146705.1:c.3742T>C	NP_001140177.1:p.Ser1248Pro
NM_001146706.1:c.3478T>C	NP_001140178.1:p.Ser1160Pro
NM_004653.4:c.3649T>C	NP_004644.2:p.Ser1217Pro
XM_005262560.1:c.3514T>C	XP_005262617.1:p.Ser1172Pro
XM_005262561.1:c.3418T>C	XP_005262618.1:p.Ser1140Pro
XM_011531468.1:c.3571T>C	XP_011529770.1:p.Ser1191Pro
XR_244571.2:n.3937T>C
XR_430568.2:n.4271T>C
XM_005262560.3:c.3514T>C	XP_005262617.1:p.Ser1172Pro
XM_005262561.3:c.3418T>C	XP_005262618.1:p.Ser1140Pro
XM_011531468.3:c.3571T>C	XP_011529770.1:p.Ser1191Pro
XM_024452495.1:c.1639T>C	XP_024308263.1:p.Ser547Pro
XM_024452496.1:c.1405T>C	XP_024308264.1:p.Ser469Pro
XR_001756009.2:n.4387T>C
XR_001756010.2:n.4387T>C
XR_001756011.2:n.4252T>C
XR_001756012.2:n.4400T>C
XR_001756013.2:n.3718T>C
XR_002958832.1:n.3819T>C
XR_002958834.1:n.4043T>C
XR_002958835.1:n.3926T>C
XR_002958836.1:n.4609T>C
XR_002958837.1:n.4416T>C
XR_244571.4:n.3936T>C
XR_430568.4:n.4270T>C
NM_001146706.2:c.3478T>C	NP_001140178.1:p.Ser1160Pro
NM_004653.5:c.3649T>C MANE Select	NP_004644.2:p.Ser1217Pro
NM_001146705.2:c.3742T>C	NP_001140177.1:p.Ser1248Pro