Canonical Allele Identifier: CA414843111

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869314G>C (hg19) ; chrY:g.19707428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707428G>C , CM000686.2:g.19707428G>C	GRCh38
NC_000024.9:g.21869314G>C , CM000686.1:g.21869314G>C	GRCh37
NC_000024.8:g.20328702G>C	NCBI36
NG_032920.1:g.42512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3718C>G MANE Select	ENSP00000322408.4:p.Pro1240Ala
ENST00000317961.8:c.3718C>G	ENSP00000322408.4:p.Pro1240Ala
ENST00000382806.6:c.3547C>G	ENSP00000372256.2:p.Pro1183Ala
ENST00000415360.1:c.634C>G	ENSP00000389433.1:p.Pro212Ala
ENST00000440077.5:c.3595C>G	ENSP00000398543.1:p.Pro1199Ala
ENST00000469599.6:n.2316C>G
ENST00000492117.1:n.3610C>G
ENST00000541639.5:c.3811C>G	ENSP00000444293.1:p.Pro1271Ala
NM_001146705.1:c.3811C>G	NP_001140177.1:p.Pro1271Ala
NM_001146706.1:c.3547C>G	NP_001140178.1:p.Pro1183Ala
NM_004653.4:c.3718C>G	NP_004644.2:p.Pro1240Ala
XM_005262560.1:c.3583C>G	XP_005262617.1:p.Pro1195Ala
XM_005262561.1:c.3487C>G	XP_005262618.1:p.Pro1163Ala
XM_011531468.1:c.3640C>G	XP_011529770.1:p.Pro1214Ala
XR_244571.2:n.4006C>G
XR_430568.2:n.4340C>G
XM_005262560.3:c.3583C>G	XP_005262617.1:p.Pro1195Ala
XM_005262561.3:c.3487C>G	XP_005262618.1:p.Pro1163Ala
XM_011531468.3:c.3640C>G	XP_011529770.1:p.Pro1214Ala
XM_024452495.1:c.1708C>G	XP_024308263.1:p.Pro570Ala
XM_024452496.1:c.1474C>G	XP_024308264.1:p.Pro492Ala
XR_001756009.2:n.4456C>G
XR_001756010.2:n.4456C>G
XR_001756011.2:n.4321C>G
XR_001756012.2:n.4469C>G
XR_001756013.2:n.3787C>G
XR_002958832.1:n.3888C>G
XR_002958834.1:n.4112C>G
XR_002958835.1:n.3995C>G
XR_002958836.1:n.4678C>G
XR_002958837.1:n.4485C>G
XR_244571.4:n.4005C>G
XR_430568.4:n.4339C>G
NM_001146706.2:c.3547C>G	NP_001140178.1:p.Pro1183Ala
NM_004653.5:c.3718C>G MANE Select	NP_004644.2:p.Pro1240Ala
NM_001146705.2:c.3811C>G	NP_001140177.1:p.Pro1271Ala