Canonical Allele Identifier: CA414841934

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868702G>C (hg19) ; chrY:g.19706816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706816G>C , CM000686.2:g.19706816G>C	GRCh38
NC_000024.9:g.21868702G>C , CM000686.1:g.21868702G>C	GRCh37
NC_000024.8:g.20328090G>C	NCBI36
NG_032920.1:g.43124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4047C>G MANE Select	ENSP00000322408.4:p.Asn1349Lys
ENST00000317961.8:c.4047C>G	ENSP00000322408.4:p.Asn1349Lys
ENST00000382806.6:c.3876C>G	ENSP00000372256.2:p.Asn1292Lys
ENST00000440077.5:c.3924C>G	ENSP00000398543.1:p.Asn1308Lys
ENST00000469599.6:n.2645C>G
ENST00000492117.1:n.3939C>G
ENST00000541639.5:c.4140C>G	ENSP00000444293.1:p.Asn1380Lys
NM_001146705.1:c.4140C>G	NP_001140177.1:p.Asn1380Lys
NM_001146706.1:c.3876C>G	NP_001140178.1:p.Asn1292Lys
NM_004653.4:c.4047C>G	NP_004644.2:p.Asn1349Lys
XM_005262560.1:c.3912C>G	XP_005262617.1:p.Asn1304Lys
XM_005262561.1:c.3816C>G	XP_005262618.1:p.Asn1272Lys
XM_011531468.1:c.3969C>G	XP_011529770.1:p.Asn1323Lys
XR_244571.2:n.4335C>G
XR_430568.2:n.4669C>G
XM_005262560.3:c.3912C>G	XP_005262617.1:p.Asn1304Lys
XM_005262561.3:c.3816C>G	XP_005262618.1:p.Asn1272Lys
XM_011531468.3:c.3969C>G	XP_011529770.1:p.Asn1323Lys
XM_024452495.1:c.2037C>G	XP_024308263.1:p.Asn679Lys
XM_024452496.1:c.1803C>G	XP_024308264.1:p.Asn601Lys
XR_001756009.2:n.4785C>G
XR_001756010.2:n.4785C>G
XR_001756011.2:n.4650C>G
XR_001756012.2:n.4798C>G
XR_001756013.2:n.4116C>G
XR_002958832.1:n.4217C>G
XR_002958834.1:n.4441C>G
XR_002958835.1:n.4324C>G
XR_002958836.1:n.5007C>G
XR_002958837.1:n.4814C>G
XR_244571.4:n.4334C>G
XR_430568.4:n.4668C>G
NM_001146706.2:c.3876C>G	NP_001140178.1:p.Asn1292Lys
NM_004653.5:c.4047C>G MANE Select	NP_004644.2:p.Asn1349Lys
NM_001146705.2:c.4140C>G	NP_001140177.1:p.Asn1380Lys