Canonical Allele Identifier: CA414843348

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869385G>C (hg19) ; chrY:g.19707499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707499G>C , CM000686.2:g.19707499G>C	GRCh38
NC_000024.9:g.21869385G>C , CM000686.1:g.21869385G>C	GRCh37
NC_000024.8:g.20328773G>C	NCBI36
NG_032920.1:g.42441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3647C>G MANE Select	ENSP00000322408.4:p.Ser1216Ter
ENST00000317961.8:c.3647C>G	ENSP00000322408.4:p.Ser1216Ter
ENST00000382806.6:c.3476C>G	ENSP00000372256.2:p.Ser1159Ter
ENST00000415360.1:c.563C>G	ENSP00000389433.1:p.Ser188Ter
ENST00000440077.5:c.3524C>G	ENSP00000398543.1:p.Ser1175Ter
ENST00000469599.6:n.2245C>G
ENST00000492117.1:n.3539C>G
ENST00000541639.5:c.3740C>G	ENSP00000444293.1:p.Ser1247Ter
NM_001146705.1:c.3740C>G	NP_001140177.1:p.Ser1247Ter
NM_001146706.1:c.3476C>G	NP_001140178.1:p.Ser1159Ter
NM_004653.4:c.3647C>G	NP_004644.2:p.Ser1216Ter
XM_005262560.1:c.3512C>G	XP_005262617.1:p.Ser1171Ter
XM_005262561.1:c.3416C>G	XP_005262618.1:p.Ser1139Ter
XM_011531468.1:c.3569C>G	XP_011529770.1:p.Ser1190Ter
XR_244571.2:n.3935C>G
XR_430568.2:n.4269C>G
XM_005262560.3:c.3512C>G	XP_005262617.1:p.Ser1171Ter
XM_005262561.3:c.3416C>G	XP_005262618.1:p.Ser1139Ter
XM_011531468.3:c.3569C>G	XP_011529770.1:p.Ser1190Ter
XM_024452495.1:c.1637C>G	XP_024308263.1:p.Ser546Ter
XM_024452496.1:c.1403C>G	XP_024308264.1:p.Ser468Ter
XR_001756009.2:n.4385C>G
XR_001756010.2:n.4385C>G
XR_001756011.2:n.4250C>G
XR_001756012.2:n.4398C>G
XR_001756013.2:n.3716C>G
XR_002958832.1:n.3817C>G
XR_002958834.1:n.4041C>G
XR_002958835.1:n.3924C>G
XR_002958836.1:n.4607C>G
XR_002958837.1:n.4414C>G
XR_244571.4:n.3934C>G
XR_430568.4:n.4268C>G
NM_001146706.2:c.3476C>G	NP_001140178.1:p.Ser1159Ter
NM_004653.5:c.3647C>G MANE Select	NP_004644.2:p.Ser1216Ter
NM_001146705.2:c.3740C>G	NP_001140177.1:p.Ser1247Ter