Canonical Allele Identifier: CA414843450

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869412A>G (hg19) ; chrY:g.19707526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707526A>G , CM000686.2:g.19707526A>G	GRCh38
NC_000024.9:g.21869412A>G , CM000686.1:g.21869412A>G	GRCh37
NC_000024.8:g.20328800A>G	NCBI36
NG_032920.1:g.42414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3620T>C MANE Select	ENSP00000322408.4:p.Leu1207Pro
ENST00000317961.8:c.3620T>C	ENSP00000322408.4:p.Leu1207Pro
ENST00000382806.6:c.3449T>C	ENSP00000372256.2:p.Leu1150Pro
ENST00000415360.1:c.536T>C	ENSP00000389433.1:p.Leu179Pro
ENST00000440077.5:c.3497T>C	ENSP00000398543.1:p.Leu1166Pro
ENST00000469599.6:n.2218T>C
ENST00000492117.1:n.3512T>C
ENST00000541639.5:c.3713T>C	ENSP00000444293.1:p.Leu1238Pro
NM_001146705.1:c.3713T>C	NP_001140177.1:p.Leu1238Pro
NM_001146706.1:c.3449T>C	NP_001140178.1:p.Leu1150Pro
NM_004653.4:c.3620T>C	NP_004644.2:p.Leu1207Pro
XM_005262560.1:c.3485T>C	XP_005262617.1:p.Leu1162Pro
XM_005262561.1:c.3389T>C	XP_005262618.1:p.Leu1130Pro
XM_011531468.1:c.3542T>C	XP_011529770.1:p.Leu1181Pro
XR_244571.2:n.3908T>C
XR_430568.2:n.4242T>C
XM_005262560.3:c.3485T>C	XP_005262617.1:p.Leu1162Pro
XM_005262561.3:c.3389T>C	XP_005262618.1:p.Leu1130Pro
XM_011531468.3:c.3542T>C	XP_011529770.1:p.Leu1181Pro
XM_024452495.1:c.1610T>C	XP_024308263.1:p.Leu537Pro
XM_024452496.1:c.1376T>C	XP_024308264.1:p.Leu459Pro
XR_001756009.2:n.4358T>C
XR_001756010.2:n.4358T>C
XR_001756011.2:n.4223T>C
XR_001756012.2:n.4371T>C
XR_001756013.2:n.3689T>C
XR_002958832.1:n.3790T>C
XR_002958834.1:n.4014T>C
XR_002958835.1:n.3897T>C
XR_002958836.1:n.4580T>C
XR_002958837.1:n.4387T>C
XR_244571.4:n.3907T>C
XR_430568.4:n.4241T>C
NM_001146706.2:c.3449T>C	NP_001140178.1:p.Leu1150Pro
NM_004653.5:c.3620T>C MANE Select	NP_004644.2:p.Leu1207Pro
NM_001146705.2:c.3713T>C	NP_001140177.1:p.Leu1238Pro