Canonical Allele Identifier: CA414843596

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869451T>G (hg19) ; chrY:g.19707565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707565T>G , CM000686.2:g.19707565T>G	GRCh38
NC_000024.9:g.21869451T>G , CM000686.1:g.21869451T>G	GRCh37
NC_000024.8:g.20328839T>G	NCBI36
NG_032920.1:g.42375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3581A>C MANE Select	ENSP00000322408.4:p.Asp1194Ala
ENST00000317961.8:c.3581A>C	ENSP00000322408.4:p.Asp1194Ala
ENST00000382806.6:c.3410A>C	ENSP00000372256.2:p.Asp1137Ala
ENST00000415360.1:c.497A>C	ENSP00000389433.1:p.Asp166Ala
ENST00000440077.5:c.3458A>C	ENSP00000398543.1:p.Asp1153Ala
ENST00000469599.6:n.2179A>C
ENST00000492117.1:n.3473A>C
ENST00000541639.5:c.3674A>C	ENSP00000444293.1:p.Asp1225Ala
NM_001146705.1:c.3674A>C	NP_001140177.1:p.Asp1225Ala
NM_001146706.1:c.3410A>C	NP_001140178.1:p.Asp1137Ala
NM_004653.4:c.3581A>C	NP_004644.2:p.Asp1194Ala
XM_005262560.1:c.3446A>C	XP_005262617.1:p.Asp1149Ala
XM_005262561.1:c.3350A>C	XP_005262618.1:p.Asp1117Ala
XM_011531468.1:c.3503A>C	XP_011529770.1:p.Asp1168Ala
XR_244571.2:n.3869A>C
XR_430568.2:n.4203A>C
XM_005262560.3:c.3446A>C	XP_005262617.1:p.Asp1149Ala
XM_005262561.3:c.3350A>C	XP_005262618.1:p.Asp1117Ala
XM_011531468.3:c.3503A>C	XP_011529770.1:p.Asp1168Ala
XM_024452495.1:c.1571A>C	XP_024308263.1:p.Asp524Ala
XM_024452496.1:c.1337A>C	XP_024308264.1:p.Asp446Ala
XR_001756009.2:n.4319A>C
XR_001756010.2:n.4319A>C
XR_001756011.2:n.4184A>C
XR_001756012.2:n.4332A>C
XR_001756013.2:n.3650A>C
XR_002958832.1:n.3751A>C
XR_002958834.1:n.3975A>C
XR_002958835.1:n.3858A>C
XR_002958836.1:n.4541A>C
XR_002958837.1:n.4348A>C
XR_244571.4:n.3868A>C
XR_430568.4:n.4202A>C
NM_001146706.2:c.3410A>C	NP_001140178.1:p.Asp1137Ala
NM_004653.5:c.3581A>C MANE Select	NP_004644.2:p.Asp1194Ala
NM_001146705.2:c.3674A>C	NP_001140177.1:p.Asp1225Ala