Canonical Allele Identifier: CA520160851

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869889C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708003C>G , CM000686.2:g.19708003C>G	GRCh38
NC_000024.9:g.21869889C>G , CM000686.1:g.21869889C>G	GRCh37
NC_000024.8:g.20329277C>G	NCBI36
NG_032920.1:g.41937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3330G>C MANE Select	ENSP00000322408.4:p.Leu1110=
ENST00000317961.8:c.3330G>C	ENSP00000322408.4:p.Leu1110=
ENST00000382806.6:c.3159G>C	ENSP00000372256.2:p.Leu1053=
ENST00000415360.1:c.246G>C	ENSP00000389433.1:p.Leu82=
ENST00000440077.5:c.3207G>C	ENSP00000398543.1:p.Leu1069=
ENST00000469599.6:n.1928G>C
ENST00000492117.1:n.3222G>C
ENST00000541639.5:c.3423G>C	ENSP00000444293.1:p.Leu1141=
NM_001146705.1:c.3423G>C	NP_001140177.1:p.Leu1141=
NM_001146706.1:c.3159G>C	NP_001140178.1:p.Leu1053=
NM_004653.4:c.3330G>C	NP_004644.2:p.Leu1110=
XM_005262560.1:c.3195G>C	XP_005262617.1:p.Leu1065=
XM_005262561.1:c.3099G>C	XP_005262618.1:p.Leu1033=
XM_011531468.1:c.3252G>C	XP_011529770.1:p.Leu1084=
XR_244571.2:n.3618G>C
XR_430568.2:n.3952G>C
XM_005262560.3:c.3195G>C	XP_005262617.1:p.Leu1065=
XM_005262561.3:c.3099G>C	XP_005262618.1:p.Leu1033=
XM_011531468.3:c.3252G>C	XP_011529770.1:p.Leu1084=
XM_024452495.1:c.1320G>C	XP_024308263.1:p.Leu440=
XM_024452496.1:c.1086G>C	XP_024308264.1:p.Leu362=
XR_001756009.2:n.4068G>C
XR_001756010.2:n.4068G>C
XR_001756011.2:n.3933G>C
XR_001756012.2:n.4081G>C
XR_001756013.2:n.3399G>C
XR_002958832.1:n.3500G>C
XR_002958834.1:n.3724G>C
XR_002958835.1:n.3607G>C
XR_002958836.1:n.4290G>C
XR_002958837.1:n.4097G>C
XR_244571.4:n.3617G>C
XR_430568.4:n.3951G>C
NM_001146706.2:c.3159G>C	NP_001140178.1:p.Leu1053=
NM_004653.5:c.3330G>C MANE Select	NP_004644.2:p.Leu1110=
NM_001146705.2:c.3423G>C	NP_001140177.1:p.Leu1141=