Canonical Allele Identifier: CA517926122
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938595G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695365G>C , CM000685.2:g.108695365G>C GRCh38
NC_000023.10:g.107938595G>C , CM000685.1:g.107938595G>C GRCh37
NC_000023.9:g.107825251G>C NCBI36
NG_011977.1:g.260442G>C
NG_011977.2:g.260442G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4920G>C MANE Select ENSP00000331902.7:p.Gly1640=
ENST00000361603.7:c.4902G>C ENSP00000354505.2:p.Gly1634=
ENST00000510690.2:n.1414G>C
ENST00000644079.1:n.1751G>C
ENST00000328300.10:c.4920G>C ENSP00000331902.6:p.Gly1640=
ENST00000361603.6:c.4902G>C ENSP00000354505.2:p.Gly1634=
ENST00000504541.1:c.219+444G>C ENSP00000424845.1:n.219+444G>C
ENST00000515658.1:c.325-932G>C
NM_000495.4:c.4902G>C NP_000486.1:p.Gly1634=
NM_033380.2:c.4920G>C NP_203699.1:p.Gly1640=
XM_005262070.2:c.4911G>C XP_005262127.1:p.Gly1637=
XM_006724616.2:c.4920G>C XP_006724679.1:p.Gly1640=
XM_011530849.1:c.4596G>C XP_011529151.1:p.Gly1532=
XM_011530851.1:c.2493G>C XP_011529153.1:p.Gly831=
XM_011530849.2:c.4935G>C XP_011529151.2:p.Gly1645=
XM_017029259.2:c.4926G>C XP_016884748.1:p.Gly1642=
XM_017029260.1:c.4917G>C XP_016884749.1:p.Gly1639=
XM_017029263.2:c.3255G>C XP_016884752.1:p.Gly1085=
NM_000495.5:c.4902G>C NP_000486.1:p.Gly1634=
NM_033380.3:c.4920G>C MANE Select NP_203699.1:p.Gly1640=