Canonical Allele Identifier: CA10574740

Gene: KDM5D

Linked Data

• dbSNP Id: rs776293799
• ExAC: Y:21869336 T / C
• gnomAD v2: Y-21869336-T-C
• MyVariant Identifiers: chrY:g.21869336T>C (hg19) ; chrY:g.19707450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707450T>C , CM000686.2:g.19707450T>C	GRCh38
NC_000024.9:g.21869336T>C , CM000686.1:g.21869336T>C	GRCh37
NC_000024.8:g.20328724T>C	NCBI36
NG_032920.1:g.42490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3696A>G MANE Select	ENSP00000322408.4:p.Pro1232=
ENST00000317961.8:c.3696A>G	ENSP00000322408.4:p.Pro1232=
ENST00000382806.6:c.3525A>G	ENSP00000372256.2:p.Pro1175=
ENST00000415360.1:c.612A>G	ENSP00000389433.1:p.Pro204=
ENST00000440077.5:c.3573A>G	ENSP00000398543.1:p.Pro1191=
ENST00000469599.6:n.2294A>G
ENST00000492117.1:n.3588A>G
ENST00000541639.5:c.3789A>G	ENSP00000444293.1:p.Pro1263=
NM_001146705.1:c.3789A>G	NP_001140177.1:p.Pro1263=
NM_001146706.1:c.3525A>G	NP_001140178.1:p.Pro1175=
NM_004653.4:c.3696A>G	NP_004644.2:p.Pro1232=
XM_005262560.1:c.3561A>G	XP_005262617.1:p.Pro1187=
XM_005262561.1:c.3465A>G	XP_005262618.1:p.Pro1155=
XM_011531468.1:c.3618A>G	XP_011529770.1:p.Pro1206=
XR_244571.2:n.3984A>G
XR_430568.2:n.4318A>G
XM_005262560.3:c.3561A>G	XP_005262617.1:p.Pro1187=
XM_005262561.3:c.3465A>G	XP_005262618.1:p.Pro1155=
XM_011531468.3:c.3618A>G	XP_011529770.1:p.Pro1206=
XM_024452495.1:c.1686A>G	XP_024308263.1:p.Pro562=
XM_024452496.1:c.1452A>G	XP_024308264.1:p.Pro484=
XR_001756009.2:n.4434A>G
XR_001756010.2:n.4434A>G
XR_001756011.2:n.4299A>G
XR_001756012.2:n.4447A>G
XR_001756013.2:n.3765A>G
XR_002958832.1:n.3866A>G
XR_002958834.1:n.4090A>G
XR_002958835.1:n.3973A>G
XR_002958836.1:n.4656A>G
XR_002958837.1:n.4463A>G
XR_244571.4:n.3983A>G
XR_430568.4:n.4317A>G
NM_001146706.2:c.3525A>G	NP_001140178.1:p.Pro1175=
NM_004653.5:c.3696A>G MANE Select	NP_004644.2:p.Pro1232=
NM_001146705.2:c.3789A>G	NP_001140177.1:p.Pro1263=