Canonical Allele Identifier: CA414132961

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938644A>T (hg19) ; chrX:g.108695414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695414A>T , CM000685.2:g.108695414A>T	GRCh38
NC_000023.10:g.107938644A>T , CM000685.1:g.107938644A>T	GRCh37
NC_000023.9:g.107825300A>T	NCBI36
NG_011977.1:g.260491A>T
NG_011977.2:g.260491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4969A>T MANE Select	ENSP00000331902.7:p.Thr1657Ser
ENST00000361603.7:c.4951A>T	ENSP00000354505.2:p.Thr1651Ser
ENST00000510690.2:n.1463A>T
ENST00000644079.1:n.1800A>T
ENST00000328300.10:c.4969A>T	ENSP00000331902.6:p.Thr1657Ser
ENST00000361603.6:c.4951A>T	ENSP00000354505.2:p.Thr1651Ser
ENST00000504541.1:c.219+493A>T	ENSP00000424845.1:n.219+493A>T
ENST00000515658.1:c.325-883A>T
NM_000495.4:c.4951A>T	NP_000486.1:p.Thr1651Ser
NM_033380.2:c.4969A>T	NP_203699.1:p.Thr1657Ser
XM_005262070.2:c.4960A>T	XP_005262127.1:p.Thr1654Ser
XM_006724616.2:c.4969A>T	XP_006724679.1:p.Thr1657Ser
XM_011530849.1:c.4645A>T	XP_011529151.1:p.Thr1549Ser
XM_011530851.1:c.2542A>T	XP_011529153.1:p.Thr848Ser
XM_011530849.2:c.4984A>T	XP_011529151.2:p.Thr1662Ser
XM_017029259.2:c.4975A>T	XP_016884748.1:p.Thr1659Ser
XM_017029260.1:c.4966A>T	XP_016884749.1:p.Thr1656Ser
XM_017029263.2:c.3304A>T	XP_016884752.1:p.Thr1102Ser
NM_000495.5:c.4951A>T	NP_000486.1:p.Thr1651Ser
NM_033380.3:c.4969A>T MANE Select	NP_203699.1:p.Thr1657Ser