Canonical Allele Identifier: CA414133014

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938668A>T (hg19) ; chrX:g.108695438A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695438A>T , CM000685.2:g.108695438A>T	GRCh38
NC_000023.10:g.107938668A>T , CM000685.1:g.107938668A>T	GRCh37
NC_000023.9:g.107825324A>T	NCBI36
NG_011977.1:g.260515A>T
NG_011977.2:g.260515A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4993A>T MANE Select	ENSP00000331902.7:p.Ser1665Cys
ENST00000361603.7:c.4975A>T	ENSP00000354505.2:p.Ser1659Cys
ENST00000510690.2:n.1487A>T
ENST00000644079.1:n.1824A>T
ENST00000328300.10:c.4993A>T	ENSP00000331902.6:p.Ser1665Cys
ENST00000361603.6:c.4975A>T	ENSP00000354505.2:p.Ser1659Cys
ENST00000504541.1:c.219+517A>T	ENSP00000424845.1:n.219+517A>T
ENST00000515658.1:c.325-859A>T
NM_000495.4:c.4975A>T	NP_000486.1:p.Ser1659Cys
NM_033380.2:c.4993A>T	NP_203699.1:p.Ser1665Cys
XM_005262070.2:c.4984A>T	XP_005262127.1:p.Ser1662Cys
XM_006724616.2:c.4993A>T	XP_006724679.1:p.Ser1665Cys
XM_011530849.1:c.4669A>T	XP_011529151.1:p.Ser1557Cys
XM_011530851.1:c.2566A>T	XP_011529153.1:p.Ser856Cys
XM_011530849.2:c.5008A>T	XP_011529151.2:p.Ser1670Cys
XM_017029259.2:c.4999A>T	XP_016884748.1:p.Ser1667Cys
XM_017029260.1:c.4990A>T	XP_016884749.1:p.Ser1664Cys
XM_017029263.2:c.3328A>T	XP_016884752.1:p.Ser1110Cys
NM_000495.5:c.4975A>T	NP_000486.1:p.Ser1659Cys
NM_033380.3:c.4993A>T MANE Select	NP_203699.1:p.Ser1665Cys