Canonical Allele Identifier: CA414844680

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19708044-A-G
• gnomAD v4: Y-19708044-A-G
• MyVariant Identifiers: chrY:g.21869930A>G (hg19) ; chrY:g.19708044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708044A>G , CM000686.2:g.19708044A>G	GRCh38
NC_000024.9:g.21869930A>G , CM000686.1:g.21869930A>G	GRCh37
NC_000024.8:g.20329318A>G	NCBI36
NG_032920.1:g.41896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3289T>C MANE Select	ENSP00000322408.4:p.Ser1097Pro
ENST00000317961.8:c.3289T>C	ENSP00000322408.4:p.Ser1097Pro
ENST00000382806.6:c.3118T>C	ENSP00000372256.2:p.Ser1040Pro
ENST00000415360.1:c.205T>C	ENSP00000389433.1:p.Ser69Pro
ENST00000440077.5:c.3166T>C	ENSP00000398543.1:p.Ser1056Pro
ENST00000469599.6:n.1887T>C
ENST00000492117.1:n.3181T>C
ENST00000541639.5:c.3382T>C	ENSP00000444293.1:p.Ser1128Pro
NM_001146705.1:c.3382T>C	NP_001140177.1:p.Ser1128Pro
NM_001146706.1:c.3118T>C	NP_001140178.1:p.Ser1040Pro
NM_004653.4:c.3289T>C	NP_004644.2:p.Ser1097Pro
XM_005262560.1:c.3154T>C	XP_005262617.1:p.Ser1052Pro
XM_005262561.1:c.3058T>C	XP_005262618.1:p.Ser1020Pro
XM_011531468.1:c.3211T>C	XP_011529770.1:p.Ser1071Pro
XR_244571.2:n.3577T>C
XR_430568.2:n.3911T>C
XM_005262560.3:c.3154T>C	XP_005262617.1:p.Ser1052Pro
XM_005262561.3:c.3058T>C	XP_005262618.1:p.Ser1020Pro
XM_011531468.3:c.3211T>C	XP_011529770.1:p.Ser1071Pro
XM_024452495.1:c.1279T>C	XP_024308263.1:p.Ser427Pro
XM_024452496.1:c.1045T>C	XP_024308264.1:p.Ser349Pro
XR_001756009.2:n.4027T>C
XR_001756010.2:n.4027T>C
XR_001756011.2:n.3892T>C
XR_001756012.2:n.4040T>C
XR_001756013.2:n.3358T>C
XR_002958832.1:n.3459T>C
XR_002958834.1:n.3683T>C
XR_002958835.1:n.3566T>C
XR_002958836.1:n.4249T>C
XR_002958837.1:n.4056T>C
XR_244571.4:n.3576T>C
XR_430568.4:n.3910T>C
NM_001146706.2:c.3118T>C	NP_001140178.1:p.Ser1040Pro
NM_004653.5:c.3289T>C MANE Select	NP_004644.2:p.Ser1097Pro
NM_001146705.2:c.3382T>C	NP_001140177.1:p.Ser1128Pro