Canonical Allele Identifier: CA414843754

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869491G>C (hg19) ; chrY:g.19707605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707605G>C , CM000686.2:g.19707605G>C	GRCh38
NC_000024.9:g.21869491G>C , CM000686.1:g.21869491G>C	GRCh37
NC_000024.8:g.20328879G>C	NCBI36
NG_032920.1:g.42335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3541C>G MANE Select	ENSP00000322408.4:p.Pro1181Ala
ENST00000317961.8:c.3541C>G	ENSP00000322408.4:p.Pro1181Ala
ENST00000382806.6:c.3370C>G	ENSP00000372256.2:p.Pro1124Ala
ENST00000415360.1:c.457C>G	ENSP00000389433.1:p.Pro153Ala
ENST00000440077.5:c.3418C>G	ENSP00000398543.1:p.Pro1140Ala
ENST00000469599.6:n.2139C>G
ENST00000492117.1:n.3433C>G
ENST00000541639.5:c.3634C>G	ENSP00000444293.1:p.Pro1212Ala
NM_001146705.1:c.3634C>G	NP_001140177.1:p.Pro1212Ala
NM_001146706.1:c.3370C>G	NP_001140178.1:p.Pro1124Ala
NM_004653.4:c.3541C>G	NP_004644.2:p.Pro1181Ala
XM_005262560.1:c.3406C>G	XP_005262617.1:p.Pro1136Ala
XM_005262561.1:c.3310C>G	XP_005262618.1:p.Pro1104Ala
XM_011531468.1:c.3463C>G	XP_011529770.1:p.Pro1155Ala
XR_244571.2:n.3829C>G
XR_430568.2:n.4163C>G
XM_005262560.3:c.3406C>G	XP_005262617.1:p.Pro1136Ala
XM_005262561.3:c.3310C>G	XP_005262618.1:p.Pro1104Ala
XM_011531468.3:c.3463C>G	XP_011529770.1:p.Pro1155Ala
XM_024452495.1:c.1531C>G	XP_024308263.1:p.Pro511Ala
XM_024452496.1:c.1297C>G	XP_024308264.1:p.Pro433Ala
XR_001756009.2:n.4279C>G
XR_001756010.2:n.4279C>G
XR_001756011.2:n.4144C>G
XR_001756012.2:n.4292C>G
XR_001756013.2:n.3610C>G
XR_002958832.1:n.3711C>G
XR_002958834.1:n.3935C>G
XR_002958835.1:n.3818C>G
XR_002958836.1:n.4501C>G
XR_002958837.1:n.4308C>G
XR_244571.4:n.3828C>G
XR_430568.4:n.4162C>G
NM_001146706.2:c.3370C>G	NP_001140178.1:p.Pro1124Ala
NM_004653.5:c.3541C>G MANE Select	NP_004644.2:p.Pro1181Ala
NM_001146705.2:c.3634C>G	NP_001140177.1:p.Pro1212Ala