Canonical Allele Identifier: CA414844409

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869873C>A (hg19) ; chrY:g.19707987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707987C>A , CM000686.2:g.19707987C>A	GRCh38
NC_000024.9:g.21869873C>A , CM000686.1:g.21869873C>A	GRCh37
NC_000024.8:g.20329261C>A	NCBI36
NG_032920.1:g.41953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3346G>T MANE Select	ENSP00000322408.4:p.Asp1116Tyr
ENST00000317961.8:c.3346G>T	ENSP00000322408.4:p.Asp1116Tyr
ENST00000382806.6:c.3175G>T	ENSP00000372256.2:p.Asp1059Tyr
ENST00000415360.1:c.262G>T	ENSP00000389433.1:p.Asp88Tyr
ENST00000440077.5:c.3223G>T	ENSP00000398543.1:p.Asp1075Tyr
ENST00000469599.6:n.1944G>T
ENST00000492117.1:n.3238G>T
ENST00000541639.5:c.3439G>T	ENSP00000444293.1:p.Asp1147Tyr
NM_001146705.1:c.3439G>T	NP_001140177.1:p.Asp1147Tyr
NM_001146706.1:c.3175G>T	NP_001140178.1:p.Asp1059Tyr
NM_004653.4:c.3346G>T	NP_004644.2:p.Asp1116Tyr
XM_005262560.1:c.3211G>T	XP_005262617.1:p.Asp1071Tyr
XM_005262561.1:c.3115G>T	XP_005262618.1:p.Asp1039Tyr
XM_011531468.1:c.3268G>T	XP_011529770.1:p.Asp1090Tyr
XR_244571.2:n.3634G>T
XR_430568.2:n.3968G>T
XM_005262560.3:c.3211G>T	XP_005262617.1:p.Asp1071Tyr
XM_005262561.3:c.3115G>T	XP_005262618.1:p.Asp1039Tyr
XM_011531468.3:c.3268G>T	XP_011529770.1:p.Asp1090Tyr
XM_024452495.1:c.1336G>T	XP_024308263.1:p.Asp446Tyr
XM_024452496.1:c.1102G>T	XP_024308264.1:p.Asp368Tyr
XR_001756009.2:n.4084G>T
XR_001756010.2:n.4084G>T
XR_001756011.2:n.3949G>T
XR_001756012.2:n.4097G>T
XR_001756013.2:n.3415G>T
XR_002958832.1:n.3516G>T
XR_002958834.1:n.3740G>T
XR_002958835.1:n.3623G>T
XR_002958836.1:n.4306G>T
XR_002958837.1:n.4113G>T
XR_244571.4:n.3633G>T
XR_430568.4:n.3967G>T
NM_001146706.2:c.3175G>T	NP_001140178.1:p.Asp1059Tyr
NM_004653.5:c.3346G>T MANE Select	NP_004644.2:p.Asp1116Tyr
NM_001146705.2:c.3439G>T	NP_001140177.1:p.Asp1147Tyr