Canonical Allele Identifier: CA414844760

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869948G>C (hg19) ; chrY:g.19708062G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708062G>C , CM000686.2:g.19708062G>C	GRCh38
NC_000024.9:g.21869948G>C , CM000686.1:g.21869948G>C	GRCh37
NC_000024.8:g.20329336G>C	NCBI36
NG_032920.1:g.41878C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3271C>G MANE Select	ENSP00000322408.4:p.Pro1091Ala
ENST00000317961.8:c.3271C>G	ENSP00000322408.4:p.Pro1091Ala
ENST00000382806.6:c.3100C>G	ENSP00000372256.2:p.Pro1034Ala
ENST00000415360.1:c.187C>G	ENSP00000389433.1:p.Pro63Ala
ENST00000440077.5:c.3148C>G	ENSP00000398543.1:p.Pro1050Ala
ENST00000469599.6:n.1869C>G
ENST00000492117.1:n.3163C>G
ENST00000541639.5:c.3364C>G	ENSP00000444293.1:p.Pro1122Ala
NM_001146705.1:c.3364C>G	NP_001140177.1:p.Pro1122Ala
NM_001146706.1:c.3100C>G	NP_001140178.1:p.Pro1034Ala
NM_004653.4:c.3271C>G	NP_004644.2:p.Pro1091Ala
XM_005262560.1:c.3136C>G	XP_005262617.1:p.Pro1046Ala
XM_005262561.1:c.3040C>G	XP_005262618.1:p.Pro1014Ala
XM_011531468.1:c.3193C>G	XP_011529770.1:p.Pro1065Ala
XR_244571.2:n.3559C>G
XR_430568.2:n.3893C>G
XM_005262560.3:c.3136C>G	XP_005262617.1:p.Pro1046Ala
XM_005262561.3:c.3040C>G	XP_005262618.1:p.Pro1014Ala
XM_011531468.3:c.3193C>G	XP_011529770.1:p.Pro1065Ala
XM_024452495.1:c.1261C>G	XP_024308263.1:p.Pro421Ala
XM_024452496.1:c.1027C>G	XP_024308264.1:p.Pro343Ala
XR_001756009.2:n.4009C>G
XR_001756010.2:n.4009C>G
XR_001756011.2:n.3874C>G
XR_001756012.2:n.4022C>G
XR_001756013.2:n.3340C>G
XR_002958832.1:n.3441C>G
XR_002958834.1:n.3665C>G
XR_002958835.1:n.3548C>G
XR_002958836.1:n.4231C>G
XR_002958837.1:n.4038C>G
XR_244571.4:n.3558C>G
XR_430568.4:n.3892C>G
NM_001146706.2:c.3100C>G	NP_001140178.1:p.Pro1034Ala
NM_004653.5:c.3271C>G MANE Select	NP_004644.2:p.Pro1091Ala
NM_001146705.2:c.3364C>G	NP_001140177.1:p.Pro1122Ala