Canonical Allele Identifier: CA360807704

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726515T>C (hg19) ; chr5:g.132390823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390823T>C , CM000667.2:g.132390823T>C	GRCh38
NC_000005.9:g.131726515T>C , CM000667.1:g.131726515T>C	GRCh37
NC_000005.8:g.131754414T>C	NCBI36
NG_008982.1:g.26115T>C
NG_008982.2:g.26120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1027T>C	ENSP00000388838.2:p.Tyr343His
ENST00000435065.7:c.1258T>C	ENSP00000402760.2:p.Tyr420His
ENST00000448810.6:c.*38T>C	ENSP00000401860.2:n.*38T>C
ENST00000685543.1:n.1327T>C
ENST00000686757.1:c.*350T>C	ENSP00000510721.1:n.*350T>C
ENST00000687740.1:n.3871T>C
ENST00000688151.1:n.2496T>C
ENST00000689271.1:c.1033T>C	ENSP00000510797.1:p.Tyr345His
ENST00000690900.1:c.*350T>C	ENSP00000510703.1:n.*350T>C
ENST00000692212.1:n.2798T>C
ENST00000692355.1:c.439T>C
ENST00000692413.1:c.1168T>C	ENSP00000509374.1:p.Tyr390His
ENST00000692825.1:c.1254T>C	ENSP00000509447.1:n.1254T>C
ENST00000693308.1:c.1234T>C	ENSP00000509770.1:p.Tyr412His
ENST00000693763.1:n.2346T>C
ENST00000245407.8:c.1186T>C MANE Select	ENSP00000245407.3:p.Tyr396His
ENST00000245407.7:c.1186T>C	ENSP00000245407.3:p.Tyr396His
ENST00000435065.6:c.1258T>C	ENSP00000402760.2:p.Tyr420His
ENST00000447841.5:c.112-1610T>C
ENST00000448810.5:c.448T>C
ENST00000461013.5:n.8608T>C
ENST00000475308.1:n.1864T>C
ENST00000479605.5:n.289T>C
NM_001308122.1:c.1258T>C	NP_001295051.1:p.Tyr420His
NM_003060.3:c.1186T>C	NP_003051.1:p.Tyr396His
XM_011543590.1:c.568T>C	XP_011541892.1:p.Tyr190His
XR_427718.1:n.1546T>C
XR_948290.1:n.1394-1610T>C
XR_948291.1:n.1540T>C
XM_011543590.2:c.568T>C	XP_011541892.1:p.Tyr190His
XM_017009778.2:c.658T>C	XP_016865267.1:p.Tyr220His
XR_001742215.1:n.1441T>C
XR_001742216.1:n.1460T>C
XR_427718.2:n.1546T>C
XR_948290.2:n.1394-1610T>C
XR_948291.2:n.1540T>C
NM_003060.4:c.1186T>C MANE Select	NP_003051.1:p.Tyr396His
NM_001308122.2:c.1258T>C	NP_001295051.1:p.Tyr420His