Canonical Allele Identifier: CA414132750

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938552G>C (hg19) ; chrX:g.108695322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695322G>C , CM000685.2:g.108695322G>C	GRCh38
NC_000023.10:g.107938552G>C , CM000685.1:g.107938552G>C	GRCh37
NC_000023.9:g.107825208G>C	NCBI36
NG_011977.1:g.260399G>C
NG_011977.2:g.260399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4877G>C MANE Select	ENSP00000331902.7:p.Cys1626Ser
ENST00000361603.7:c.4859G>C	ENSP00000354505.2:p.Cys1620Ser
ENST00000510690.2:n.1371G>C
ENST00000644079.1:n.1708G>C
ENST00000328300.10:c.4877G>C	ENSP00000331902.6:p.Cys1626Ser
ENST00000361603.6:c.4859G>C	ENSP00000354505.2:p.Cys1620Ser
ENST00000504541.1:c.219+401G>C	ENSP00000424845.1:n.219+401G>C
ENST00000515658.1:c.325-975G>C
NM_000495.4:c.4859G>C	NP_000486.1:p.Cys1620Ser
NM_033380.2:c.4877G>C	NP_203699.1:p.Cys1626Ser
XM_005262070.2:c.4868G>C	XP_005262127.1:p.Cys1623Ser
XM_006724616.2:c.4877G>C	XP_006724679.1:p.Cys1626Ser
XM_011530849.1:c.4553G>C	XP_011529151.1:p.Cys1518Ser
XM_011530851.1:c.2450G>C	XP_011529153.1:p.Cys817Ser
XM_011530849.2:c.4892G>C	XP_011529151.2:p.Cys1631Ser
XM_017029259.2:c.4883G>C	XP_016884748.1:p.Cys1628Ser
XM_017029260.1:c.4874G>C	XP_016884749.1:p.Cys1625Ser
XM_017029263.2:c.3212G>C	XP_016884752.1:p.Cys1071Ser
NM_000495.5:c.4859G>C	NP_000486.1:p.Cys1620Ser
NM_033380.3:c.4877G>C MANE Select	NP_203699.1:p.Cys1626Ser